Variant report
Variant | rs12493645 |
---|---|
Chromosome Location | chr3:85551353-85551354 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:12)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No data |
(count:12 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr3:84994697..84996927-chr3:85551100..85552839,2 | K562 | blood: | |
2 | chr3:85525792..85532904-chr3:85548163..85554926,11 | K562 | blood: | |
3 | chr3:85550694..85553715-chr3:85562655..85565189,4 | K562 | blood: | |
4 | chr3:85512384..85516287-chr3:85548853..85551591,3 | K562 | blood: | |
5 | chr3:85528291..85540418-chr3:85548148..85554862,16 | K562 | blood: | |
6 | chr3:84291765..84296920-chr3:85550637..85554814,6 | K562 | blood: | |
7 | chr3:85509846..85512397-chr3:85550866..85553089,2 | K562 | blood: | |
8 | chr3:85520722..85524381-chr3:85549502..85554850,5 | K562 | blood: | |
9 | chr3:85549675..85551954-chr3:85625697..85627676,2 | K562 | blood: | |
10 | chr3:85550792..85552939-chr3:85620775..85622757,2 | K562 | blood: | |
11 | chr3:84287116..84289415-chr3:85550323..85553207,2 | K562 | blood: | |
12 | chr3:85461933..85464830-chr3:85550203..85551783,2 | K562 | blood: |
No data |
No data |
No data |
No data |
rs_ID | r2[population] |
---|---|
rs1025531 | 0.82[CHB][hapmap];0.86[YRI][hapmap] |
rs1030721 | 0.82[CHB][hapmap];0.86[YRI][hapmap] |
rs10511075 | 0.82[CHB][hapmap] |
rs10511076 | 0.82[CHB][hapmap] |
rs10511081 | 0.82[CHB][hapmap] |
rs10511083 | 0.82[CHB][hapmap] |
rs10865610 | 0.82[CHB][hapmap] |
rs11127890 | 0.82[CHB][hapmap];0.86[YRI][hapmap] |
rs11127892 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs11127894 | 0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs11127896 | 0.82[CHB][hapmap] |
rs11919099 | 0.82[CHB][hapmap] |
rs12054398 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap] |
rs12485813 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs12486203 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs12486274 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs12487474 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs12487886 | 1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs12488009 | 0.82[ASN][1000 genomes] |
rs12488750 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs12491967 | 1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes] |
rs12492670 | 0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs12492689 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs12492923 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12493440 | 1.00[CEU][hapmap];0.92[YRI][hapmap] |
rs12493445 | 0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes] |
rs12494843 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs12495242 | 1.00[CEU][hapmap];0.93[YRI][hapmap] |
rs12495698 | 0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes] |
rs12496359 | 0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs12631454 | 0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes] |
rs12633762 | 0.82[CHB][hapmap];0.83[YRI][hapmap] |
rs12633895 | 0.95[ASN][1000 genomes] |
rs12633910 | 0.82[CHB][hapmap];0.86[MEX][hapmap] |
rs12634226 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs12636028 | 0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs12637214 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs12637236 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs12637977 | 1.00[ASN][1000 genomes] |
rs12638004 | 1.00[ASN][1000 genomes] |
rs12638040 | 0.82[CHB][hapmap] |
rs12638154 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs12638296 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs12639409 | 1.00[CHB][hapmap];1.00[JPT][hapmap] |
rs1368740 | 0.82[CHB][hapmap];0.93[YRI][hapmap] |
rs1368743 | 0.84[YRI][hapmap] |
rs1375545 | 0.82[CHB][hapmap] |
rs1375551 | 0.82[CHB][hapmap] |
rs1375554 | 0.82[CHB][hapmap] |
rs1375555 | 0.82[CHB][hapmap] |
rs1375557 | 0.82[CHB][hapmap] |
rs1449372 | 0.82[CHB][hapmap] |
rs1449373 | 0.82[CHB][hapmap] |
rs1449377 | 0.81[AFR][1000 genomes];0.89[AMR][1000 genomes] |
rs1449380 | 0.82[CHB][hapmap] |
rs1449382 | 0.82[CHB][hapmap] |
rs1449390 | 0.82[CHB][hapmap] |
rs1449391 | 0.82[CHB][hapmap] |
rs1449395 | 0.82[JPT][hapmap] |
rs1449396 | 0.82[JPT][hapmap] |
rs1449405 | 0.82[CHB][hapmap] |
rs1449409 | 0.82[CHB][hapmap] |
rs1463205 | 0.82[CHB][hapmap] |
rs1463206 | 0.82[CHB][hapmap] |
rs1463208 | 0.82[CHB][hapmap] |
rs1470635 | 0.82[CHB][hapmap] |
rs1530738 | 0.82[CHB][hapmap] |
rs1530739 | 0.82[CHB][hapmap] |
rs1530740 | 0.82[CHB][hapmap] |
rs1597315 | 0.82[CHB][hapmap] |
rs17022871 | 0.83[AMR][1000 genomes];0.95[ASN][1000 genomes] |
rs17022915 | 0.82[CHB][hapmap] |
rs17023022 | 1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap] |
rs17456763 | 0.82[CHB][hapmap] |
rs17459563 | 0.82[CHB][hapmap] |
rs17460701 | 0.82[CHB][hapmap] |
rs17516284 | 0.82[CHB][hapmap] |
rs17516346 | 0.82[CHB][hapmap] |
rs17517121 | 0.82[CHB][hapmap] |
rs17518584 | 0.82[CHB][hapmap] |
rs17519241 | 0.82[CHB][hapmap] |
rs1821349 | 0.82[LWK][hapmap];0.86[YRI][hapmap] |
rs1868532 | 0.82[CHB][hapmap] |
rs1900914 | 0.82[CHB][hapmap] |
rs1900918 | 0.82[CHB][hapmap] |
rs2029130 | 1.00[CHB][hapmap] |
rs2029133 | 0.82[CHB][hapmap] |
rs2100205 | 0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs2117151 | 0.86[YRI][hapmap] |
rs2122233 | 0.82[CHB][hapmap] |
rs2326320 | 0.82[CHB][hapmap] |
rs4441668 | 0.82[CHB][hapmap] |
rs4502590 | 0.82[CHB][hapmap] |
rs4856271 | 0.82[CHB][hapmap] |
rs4856596 | 0.82[CHB][hapmap] |
rs6549024 | 0.82[CHB][hapmap] |
rs6549036 | 0.82[CHB][hapmap] |
rs6549039 | 0.82[CHB][hapmap] |
rs6549040 | 0.82[CHB][hapmap] |
rs6549041 | 0.82[CHB][hapmap] |
rs6549043 | 0.82[CHB][hapmap] |
rs6762535 | 0.82[CHB][hapmap] |
rs6762733 | 0.82[CHB][hapmap] |
rs6766690 | 0.82[CHB][hapmap] |
rs6767245 | 0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs6767256 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs6767921 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs6788098 | 0.82[CHB][hapmap] |
rs6790699 | 0.82[CHB][hapmap] |
rs6791938 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs6794866 | 0.82[CHB][hapmap] |
rs6801823 | 0.82[CHB][hapmap] |
rs6804845 | 0.82[CHB][hapmap] |
rs724304 | 0.82[CHB][hapmap] |
rs7616458 | 0.82[CHB][hapmap] |
rs7617356 | 0.82[CHB][hapmap] |
rs7618429 | 0.82[CHB][hapmap] |
rs7620313 | 0.82[CHB][hapmap] |
rs7621463 | 0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes] |
rs7634761 | 0.82[CHB][hapmap] |
rs7643091 | 0.82[JPT][hapmap] |
rs7653790 | 0.82[CHB][hapmap] |
rs919874 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs9309977 | 0.86[YRI][hapmap] |
rs9309981 | 0.82[CHB][hapmap];0.89[CHD][hapmap];0.82[LWK][hapmap] |
rs9309982 | 0.82[CHB][hapmap];0.81[CHD][hapmap];0.84[LWK][hapmap];0.93[YRI][hapmap] |
rs9309985 | 0.82[JPT][hapmap] |
rs956281 | 0.82[CHB][hapmap] |
rs9812845 | 0.81[CHD][hapmap];0.82[JPT][hapmap] |
rs9819830 | 0.81[YRI][hapmap] |
rs9833314 | 0.82[CHB][hapmap] |
rs9838811 | 0.82[CHB][hapmap];0.81[CHD][hapmap];0.87[LWK][hapmap];0.93[YRI][hapmap] |
rs9864170 | 0.82[CHB][hapmap] |
rs9880919 | 0.82[CHB][hapmap];0.81[CHD][hapmap];0.82[LWK][hapmap];0.86[YRI][hapmap] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | esv3419993 | chr3:85030343-85663403 | Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionmiRNA | 2 gene(s) | inside rSNPs | diseases |
2 | esv2753915 | chr3:85071410-85624810 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionmiRNA | 2 gene(s) | inside rSNPs | diseases |
3 | nsv1002238 | chr3:85357855-85719373 | Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionmiRNA | 1 gene(s) | inside rSNPs | diseases |
4 | nsv536619 | chr3:85357855-85719373 | Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionmiRNA | 1 gene(s) | inside rSNPs | diseases |
5 | nsv590904 | chr3:85438564-85551403 | Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | diseases |
6 | nsv590905 | chr3:85438564-85797093 | Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive region | 1 gene(s) | inside rSNPs | diseases |
7 | nsv998829 | chr3:85449960-85641099 | Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | diseases |
8 | nsv536622 | chr3:85449960-85641099 | Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | n/a | inside rSNPs | diseases |
9 | nsv526621 | chr3:85470642-85667683 | Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | n/a | inside rSNPs | diseases |
10 | nsv1013601 | chr3:85489536-85570465 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | n/a |
11 | nsv536624 | chr3:85489536-85570465 | Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS | Chromatin interactive region | n/a | inside rSNPs | n/a |
12 | nsv1009927 | chr3:85497666-85669155 | Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh | Chromatin interactive region | n/a | inside rSNPs | diseases |
13 | nsv1010541 | chr3:85505839-85870597 | Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
14 | nsv536625 | chr3:85505839-85870597 | Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 1 gene(s) | inside rSNPs | diseases |
15 | esv2762338 | chr3:85520915-85577233 | Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | n/a |
16 | nsv1009804 | chr3:85521984-85581386 | Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | n/a |
17 | nsv536626 | chr3:85527837-85578368 | Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | n/a |
18 | nsv1002139 | chr3:85534559-85630146 | Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | n/a | inside rSNPs | diseases |
19 | nsv1006433 | chr3:85535783-85631667 | Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats | Chromatin interactive region | n/a | inside rSNPs | diseases |
20 | nsv590906 | chr3:85539816-85626054 | Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | n/a | inside rSNPs | diseases |
21 | nsv1008269 | chr3:85544536-85617198 | Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh | Chromatin interactive region | n/a | inside rSNPs | diseases |
22 | nsv536627 | chr3:85544536-85617198 | Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh | Chromatin interactive region | n/a | inside rSNPs | diseases |
23 | nsv527642 | chr3:85551353-85619451 | Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh | Chromatin interactive region | n/a | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr3:85545000-85569000 | Weak transcription | Ganglion Eminence derived primary cultured neurospheres | brain |
2 | chr3:85550400-85557200 | Active TSS | K562 | blood |