Variant report
Variant | rs5021681 |
---|---|
Chromosome Location | chr1:246378808-246378809 |
allele | A/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:6)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:6 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:246377070..246379889-chr1:246380725..246383126,2 | MCF-7 | breast: | |
2 | chr1:246345857..246348884-chr1:246378191..246381575,3 | K562 | blood: | |
3 | chr1:246377128..246379304-chr1:246383039..246386771,4 | K562 | blood: | |
4 | chr1:246371493..246375018-chr1:246378492..246381970,3 | MCF-7 | breast: | |
5 | chr1:246355633..246357976-chr1:246377083..246378948,2 | K562 | blood: | |
6 | chr1:246355867..246360590-chr1:246376151..246381097,5 | K562 | blood: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
ENSG00000185420 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10733108 | 0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10737785 | 0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10737786 | 0.99[ASN][1000 genomes] |
rs10737787 | 0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10737788 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs10754497 | 1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs10754498 | 0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs10754499 | 0.87[ASN][1000 genomes] |
rs10754500 | 0.87[ASN][1000 genomes] |
rs10802344 | 0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10802348 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10802349 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs10802351 | 0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs10802354 | 0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10802355 | 0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10802358 | 0.98[ASN][1000 genomes] |
rs10802359 | 0.99[ASN][1000 genomes] |
rs10802361 | 0.88[ASN][1000 genomes] |
rs10802362 | 0.88[ASN][1000 genomes] |
rs10802364 | 0.86[ASN][1000 genomes] |
rs10802365 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes] |
rs10802369 | 0.83[ASN][1000 genomes] |
rs10802370 | 0.83[ASN][1000 genomes] |
rs10924539 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes] |
rs10924553 | 0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10924555 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10924556 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs10924557 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10924561 | 0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes] |
rs10924562 | 0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs10924563 | 0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10924564 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10924565 | 0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10924566 | 0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10924567 | 0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10924569 | 0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10924571 | 0.99[ASN][1000 genomes] |
rs10924572 | 0.99[ASN][1000 genomes] |
rs10924574 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes] |
rs10924575 | 0.99[ASN][1000 genomes] |
rs10924577 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes] |
rs10924578 | 0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs10924579 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes] |
rs10924580 | 0.99[ASN][1000 genomes] |
rs10924581 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes] |
rs10924583 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes] |
rs10924584 | 0.89[ASN][1000 genomes] |
rs10924587 | 0.88[ASN][1000 genomes] |
rs10924591 | 0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs10924595 | 0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes] |
rs10924596 | 0.80[ASN][1000 genomes] |
rs10924597 | 0.87[ASN][1000 genomes] |
rs10924598 | 0.87[ASN][1000 genomes] |
rs10924611 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap] |
rs10924612 | 0.85[ASN][1000 genomes] |
rs10924613 | 0.84[ASN][1000 genomes] |
rs10924615 | 0.85[ASN][1000 genomes] |
rs10924617 | 0.85[ASN][1000 genomes] |
rs10924618 | 0.84[ASN][1000 genomes] |
rs10924619 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes] |
rs10924620 | 0.84[ASN][1000 genomes] |
rs10924622 | 0.83[ASN][1000 genomes] |
rs10924623 | 0.83[ASN][1000 genomes] |
rs10924624 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes] |
rs10924625 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes] |
rs10924636 | 0.82[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs10924654 | 0.86[CHB][hapmap];1.00[JPT][hapmap] |
rs12022742 | 0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs12033048 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs12034523 | 0.86[CHB][hapmap];1.00[JPT][hapmap] |
rs12035348 | 0.86[CHB][hapmap];1.00[JPT][hapmap] |
rs12036932 | 0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs12037023 | 0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs12041683 | 0.87[AFR][1000 genomes] |
rs12043226 | 0.94[CHB][hapmap];1.00[JPT][hapmap] |
rs12043382 | 0.99[ASN][1000 genomes] |
rs12057323 | 0.85[ASN][1000 genomes] |
rs12069072 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12069738 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes] |
rs12081169 | 0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs12081227 | 0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs12084149 | 0.94[ASN][1000 genomes] |
rs12085977 | 0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs12089376 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12093226 | 0.85[ASN][1000 genomes] |
rs12094187 | 0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs12116946 | 0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs12119704 | 0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs12119839 | 0.83[ASN][1000 genomes] |
rs12121062 | 0.85[ASN][1000 genomes] |
rs12130070 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs12130852 | 0.84[ASN][1000 genomes] |
rs12131185 | 0.86[JPT][hapmap] |
rs12131455 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12136871 | 0.98[ASN][1000 genomes] |
rs12140119 | 0.99[ASN][1000 genomes] |
rs12140567 | 0.95[JPT][hapmap];0.83[ASN][1000 genomes] |
rs12140733 | 0.87[ASN][1000 genomes] |
rs12143362 | 0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs12144287 | 0.99[ASN][1000 genomes] |
rs12144664 | 0.87[ASN][1000 genomes] |
rs12145702 | 0.84[ASN][1000 genomes] |
rs12145766 | 0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs12401510 | 0.83[ASN][1000 genomes] |
rs12402387 | 0.83[ASN][1000 genomes] |
rs12402816 | 0.83[ASN][1000 genomes] |
rs12402817 | 0.83[ASN][1000 genomes] |
rs12403325 | 0.85[ASN][1000 genomes] |
rs12404014 | 0.83[ASN][1000 genomes] |
rs12405937 | 0.81[AMR][1000 genomes];0.90[EUR][1000 genomes] |
rs12406081 | 0.84[ASN][1000 genomes] |
rs12406327 | 1.00[CEU][hapmap];0.91[EUR][1000 genomes] |
rs12411127 | 0.83[ASN][1000 genomes] |
rs12760011 | 0.95[JPT][hapmap] |
rs1339968 | 0.93[YRI][hapmap] |
rs1361408 | 0.89[YRI][hapmap] |
rs1361409 | 1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs1578247 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs1578248 | 0.82[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs1630253 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs1770004 | 0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs1770006 | 0.82[AMR][1000 genomes];0.92[EUR][1000 genomes] |
rs1770009 | 0.82[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs1770011 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs1780788 | 0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs1780791 | 0.82[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs1780793 | 0.93[EUR][1000 genomes] |
rs1780808 | 0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes] |
rs1780810 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap] |
rs1780819 | 0.80[AFR][1000 genomes];0.93[EUR][1000 genomes] |
rs1780824 | 0.80[AFR][1000 genomes];0.93[EUR][1000 genomes] |
rs1892211 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs1892212 | 0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs1892213 | 0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs1934538 | 0.91[CHB][hapmap];1.00[JPT][hapmap] |
rs2154197 | 0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs2186066 | 0.99[ASN][1000 genomes] |
rs2333994 | 0.91[EUR][1000 genomes] |
rs2333996 | 0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs2333997 | 0.83[ASN][1000 genomes] |
rs2333998 | 0.82[ASN][1000 genomes] |
rs2334001 | 0.92[ASN][1000 genomes] |
rs2334002 | 0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes] |
rs2489738 | 0.80[AFR][1000 genomes];0.93[EUR][1000 genomes] |
rs2791298 | 0.82[AMR][1000 genomes];0.93[EUR][1000 genomes] |
rs2801047 | 0.93[EUR][1000 genomes] |
rs2878076 | 0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes] |
rs2878077 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs2878079 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs2878080 | 0.99[ASN][1000 genomes] |
rs35763081 | 0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs4330890 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes] |
rs4636424 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes] |
rs4654094 | 0.95[ASN][1000 genomes] |
rs4654095 | 0.97[ASN][1000 genomes] |
rs4654096 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes] |
rs4654097 | 0.99[ASN][1000 genomes] |
rs4654222 | 0.99[ASN][1000 genomes] |
rs4654223 | 0.99[ASN][1000 genomes] |
rs4654225 | 0.85[ASN][1000 genomes] |
rs4654235 | 0.86[YRI][hapmap] |
rs5021682 | 0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs5021683 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs55731122 | 0.88[ASN][1000 genomes] |
rs55756416 | 0.88[ASN][1000 genomes] |
rs56149956 | 0.88[ASN][1000 genomes] |
rs56157160 | 0.88[ASN][1000 genomes] |
rs56274339 | 0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs56277503 | 0.88[ASN][1000 genomes] |
rs56358617 | 0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs57826955 | 0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs57879882 | 0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs58471606 | 0.89[ASN][1000 genomes] |
rs58818843 | 0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs59056824 | 0.88[ASN][1000 genomes] |
rs59417715 | 0.89[ASN][1000 genomes] |
rs59418901 | 0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs60410010 | 0.89[ASN][1000 genomes] |
rs60684295 | 0.89[ASN][1000 genomes] |
rs61285288 | 0.89[ASN][1000 genomes] |
rs6426284 | 0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs6426285 | 0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs6426286 | 0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs6658146 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs6663372 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap] |
rs6664781 | 0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs6667269 | 0.99[ASN][1000 genomes] |
rs6667274 | 0.99[ASN][1000 genomes] |
rs6667580 | 0.99[ASN][1000 genomes] |
rs6669105 | 0.81[AMR][1000 genomes];0.99[ASN][1000 genomes] |
rs6669193 | 0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs6669604 | 0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs6675598 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs6683238 | 0.85[ASN][1000 genomes] |
rs6695050 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs6695677 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs6699888 | 0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs6700221 | 0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs6701875 | 0.86[EUR][1000 genomes] |
rs6703420 | 0.81[AMR][1000 genomes];0.91[EUR][1000 genomes] |
rs72774464 | 0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs72774475 | 0.99[ASN][1000 genomes] |
rs72774483 | 0.87[ASN][1000 genomes] |
rs72774484 | 0.87[ASN][1000 genomes] |
rs72774485 | 0.87[ASN][1000 genomes] |
rs72774488 | 0.87[ASN][1000 genomes] |
rs72774489 | 0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes] |
rs7417739 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs7418754 | 0.94[AFR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs7528471 | 0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs7531070 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs7539358 | 0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs9645318 | 1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv497871 | chr1:245706209-246655353 | Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
2 | nsv534412 | chr1:245747724-246655416 | Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
3 | nsv1003594 | chr1:245801793-246649329 | Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
4 | nsv1008786 | chr1:245948622-246514454 | Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
5 | nsv535388 | chr1:245948622-246514454 | Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 10 gene(s) | inside rSNPs | diseases |
6 | nsv1004119 | chr1:245957145-246813150 | Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 26 gene(s) | inside rSNPs | diseases |
7 | nsv535389 | chr1:245957145-246813150 | Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 26 gene(s) | inside rSNPs | diseases |
8 | nsv1014529 | chr1:245957145-246817877 | Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 26 gene(s) | inside rSNPs | diseases |
9 | nsv1000654 | chr1:245966390-246778182 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 23 gene(s) | inside rSNPs | diseases |
10 | nsv535392 | chr1:245966390-246778182 | Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 23 gene(s) | inside rSNPs | diseases |
11 | nsv868852 | chr1:245969229-246811220 | Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 24 gene(s) | inside rSNPs | diseases |
12 | nsv948348 | chr1:246090818-246853200 | Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 28 gene(s) | inside rSNPs | diseases |
13 | nsv1007245 | chr1:246120132-246619260 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
14 | nsv535395 | chr1:246120132-246619260 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
15 | nsv1001139 | chr1:246120516-246548942 | Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
16 | nsv873409 | chr1:246122871-246429058 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
17 | nsv430402 | chr1:246124959-246787448 | Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 23 gene(s) | inside rSNPs | diseases |
18 | nsv549524 | chr1:246127777-246391677 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
19 | nsv497890 | chr1:246143172-246778453 | Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 22 gene(s) | inside rSNPs | diseases |
20 | nsv1005310 | chr1:246151590-246666101 | Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
21 | nsv1003239 | chr1:246166737-246666101 | Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
22 | nsv535397 | chr1:246166737-246666101 | Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
23 | nsv998930 | chr1:246166737-246702012 | Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
24 | nsv526469 | chr1:246168017-246490438 | Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 6 gene(s) | inside rSNPs | diseases |
25 | nsv1005825 | chr1:246174208-246688635 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
26 | nsv873411 | chr1:246188316-246429058 | Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
27 | nsv916235 | chr1:246194535-246606790 | Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 7 gene(s) | inside rSNPs | diseases |
28 | nsv535398 | chr1:246194546-246686301 | Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
29 | nsv1001462 | chr1:246194546-246686358 | Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
30 | nsv535399 | chr1:246194546-246686358 | Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
31 | nsv949329 | chr1:246220147-246710091 | Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 15 gene(s) | inside rSNPs | diseases |
32 | nsv873412 | chr1:246257416-246576661 | Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
33 | nsv995109 | chr1:246260813-246429141 | Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
34 | nsv997542 | chr1:246265590-246556626 | Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
35 | nsv1005067 | chr1:246289451-246619260 | Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
36 | nsv1012307 | chr1:246289451-246655966 | Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
37 | nsv535403 | chr1:246289451-246655966 | Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
38 | nsv468839 | chr1:246303128-246708467 | Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
39 | nsv549528 | chr1:246303128-246708467 | Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 14 gene(s) | inside rSNPs | diseases |
40 | nsv515510 | chr1:246319482-246386134 | Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 3 gene(s) | inside rSNPs | diseases |
41 | nsv533962 | chr1:246321447-246501692 | Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 4 gene(s) | inside rSNPs | diseases |
42 | nsv1001496 | chr1:246339647-246595982 | Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNA | 5 gene(s) | inside rSNPs | diseases |
43 | nsv1011199 | chr1:246342704-246464980 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive region | 2 gene(s) | inside rSNPs | diseases |
44 | nsv1010307 | chr1:246364256-246548942 | Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 2 gene(s) | inside rSNPs | diseases |
45 | nsv873413 | chr1:246364811-246475061 | Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
46 | nsv947476 | chr1:246369304-246389085 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
47 | esv2764205 | chr1:246369599-246384914 | Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
48 | nsv1006481 | chr1:246371456-246429058 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription | Chromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
49 | nsv1005573 | chr1:246378676-246740427 | Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
50 | nsv535405 | chr1:246378676-246740427 | Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 16 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:246340200-246384600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
2 | chr1:246369200-246384000 | Weak transcription | Aorta | Aorta |
3 | chr1:246374200-246382800 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
4 | chr1:246374400-246382400 | Weak transcription | H1 BMP4 Derived Trophoblast Cultured Cells | ES cell derived |
5 | chr1:246374400-246384400 | Weak transcription | Pancreas | Pancrea |
6 | chr1:246375800-246383400 | Enhancers | Primary hematopoietic stem cells G-CSF-mobilized Female | -- |
7 | chr1:246376000-246381800 | Enhancers | Primary hematopoietic stem cells short term culture | blood |
8 | chr1:246376000-246382000 | Weak transcription | NHLF | lung |
9 | chr1:246376200-246380600 | Enhancers | Primary monocytes fromperipheralblood | blood |
10 | chr1:246376800-246379600 | Enhancers | Foreskin Melanocyte Primary Cells skin03 | Skin |
11 | chr1:246377400-246379000 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
12 | chr1:246377400-246379200 | Enhancers | HSMMtube | muscle |
13 | chr1:246377400-246379200 | Enhancers | Osteobl | bone |
14 | chr1:246377400-246382000 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
15 | chr1:246377600-246379200 | Enhancers | NHDF-Ad | bronchial |
16 | chr1:246377600-246382200 | Weak transcription | HepG2 | liver |
17 | chr1:246377800-246379000 | Enhancers | Muscle Satellite Cultured Cells | -- |
18 | chr1:246377800-246379200 | Enhancers | HSMM | muscle |
19 | chr1:246378000-246379000 | Enhancers | Primary hematopoietic stem cells | blood |
20 | chr1:246378000-246379000 | Flanking Active TSS | Primary hematopoietic stem cells G-CSF-mobilized Male | -- |
21 | chr1:246378200-246379000 | Enhancers | Primary B cells from peripheral blood | blood |
22 | chr1:246378200-246379400 | Enhancers | GM12878-XiMat | blood |
23 | chr1:246378400-246379200 | Enhancers | H9 Derived Neuronal Progenitor Cultured Cells | ES cell derived |
24 | chr1:246378400-246379200 | Flanking Active TSS | Primary neutrophils fromperipheralblood | blood |
25 | chr1:246378600-246379200 | Enhancers | Primary B cells from cord blood | blood |
26 | chr1:246378600-246379200 | Enhancers | HUVEC | blood vessel |
27 | chr1:246378600-246379200 | Flanking Active TSS | K562 | blood |
28 | chr1:246378600-246379400 | Flanking Active TSS | Monocytes-CD14+_RO01746 | blood |
29 | chr1:246378800-246379000 | Enhancers | H1 Derived Mesenchymal Stem Cells | ES cell derived |
30 | chr1:246378800-246379000 | Flanking Active TSS | IMR90 fetal lung fibroblasts Cell Line | lung |
31 | chr1:246378800-246379200 | Enhancers | Fetal Stomach | stomach |
32 | chr1:246378800-246379200 | Enhancers | NH-A | brain |