Variant report
Variant | rs7844748 |
---|---|
Chromosome Location | chr8:1702343-1702344 |
allele | C/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:19)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
(count:19 , 50 per page) page:
1
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | EP300 | chr8:1702236-1702361 | K562 | blood: | n/a | n/a |
2 | MAX | chr8:1702170-1702523 | K562 | blood: | n/a | n/a |
3 | TBL1XR1 | chr8:1702145-1702531 | K562 | blood: | n/a | n/a |
4 | ZNF384 | chr8:1702174-1702358 | K562 | blood: | n/a | n/a |
5 | GTF2F1 | chr8:1702335-1702400 | K562 | blood: | n/a | n/a |
6 | POLR2A | chr8:1702237-1704353 | K562 | blood: | n/a | n/a |
7 | RCOR1 | chr8:1702325-1702395 | K562 | blood: | n/a | n/a |
8 | POLR2A | chr8:1702221-1704218 | K562 | blood: | n/a | n/a |
9 | UBTF | chr8:1702278-1702426 | K562 | blood: | n/a | n/a |
10 | JUN | chr8:1702037-1704493 | K562 | blood: | n/a | chr8:1703187-1703196 chr8:1703976-1703986 chr8:1703977-1703985 chr8:1703976-1703986 chr8:1703975-1703987 chr8:1703973-1703984 |
11 | MAZ | chr8:1702235-1702427 | K562 | blood: | n/a | n/a |
12 | SETDB1 | chr8:1702130-1702663 | U2OS | brain: | n/a | n/a |
13 | POLR2A | chr8:1702113-1704896 | IMR90 | lung: | n/a | n/a |
14 | BHLHE40 | chr8:1702304-1702348 | K562 | blood: | n/a | n/a |
15 | KAP1 | chr8:1702220-1702739 | HEK293 | kidney: | n/a | n/a |
16 | KAP1 | chr8:1702213-1702736 | K562 | blood: | n/a | n/a |
17 | POLR2A | chr8:1702237-1704405 | PBDE | blood: | n/a | n/a |
18 | CBX3 | chr8:1702174-1702542 | K562 | blood: | n/a | n/a |
19 | MYC | chr8:1702192-1702539 | K562 | blood: | n/a | n/a |
No data |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
CLN8 | TF binding region |
rs_ID | r2[population] |
---|---|
rs10087654 | 0.80[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs10095548 | 0.81[AMR][1000 genomes];0.88[ASN][1000 genomes] |
rs10095696 | 0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes] |
rs10097891 | 0.88[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes] |
rs10100341 | 0.88[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes] |
rs10102731 | 0.80[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs10105317 | 0.93[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.96[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10106153 | 0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs10109098 | 0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs10113471 | 0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs10481354 | 1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes] |
rs11136421 | 0.94[CHB][hapmap];0.88[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes] |
rs11136422 | 0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes] |
rs11136424 | 0.88[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes] |
rs11778824 | 0.81[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.87[ASN][1000 genomes] |
rs11986414 | 0.82[GIH][hapmap];0.91[MEX][hapmap] |
rs12335115 | 0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs12335117 | 0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes] |
rs12674711 | 0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs13251071 | 0.82[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs13256424 | 0.88[ASN][1000 genomes] |
rs13261755 | 0.94[ASN][1000 genomes] |
rs13282161 | 0.88[ASN][1000 genomes] |
rs13540 | 0.81[AMR][1000 genomes];0.90[ASN][1000 genomes] |
rs2293977 | 0.87[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes] |
rs28376731 | 0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes] |
rs2957085 | 0.94[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes] |
rs2977197 | 0.83[ASN][1000 genomes] |
rs35062922 | 0.86[ASN][1000 genomes] |
rs3812477 | 0.81[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes] |
rs4242538 | 0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs4242539 | 0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap] |
rs4370560 | 0.94[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs4372027 | 0.80[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs4595147 | 1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.81[MKK][hapmap];0.91[YRI][hapmap];0.92[ASN][1000 genomes] |
rs4639549 | 0.91[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs4875806 | 0.87[ASN][1000 genomes] |
rs4875889 | 0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs4875957 | 0.87[ASN][1000 genomes] |
rs4875958 | 0.88[CHB][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes] |
rs4876133 | 0.84[ASN][1000 genomes] |
rs6558518 | 0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs6558520 | 0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs6558521 | 0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6558522 | 0.93[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.96[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6558523 | 0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6558524 | 0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6558525 | 0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6558526 | 0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
rs6558527 | 0.94[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes] |
rs6558528 | 0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs6558530 | 0.86[ASN][1000 genomes] |
rs6558531 | 0.80[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs6558532 | 0.92[ASN][1000 genomes] |
rs6558533 | 0.81[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes] |
rs6558534 | 0.81[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes] |
rs6558535 | 0.80[AMR][1000 genomes];0.92[ASN][1000 genomes] |
rs6981804 | 0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6982516 | 0.89[ASN][1000 genomes] |
rs6984632 | 0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs6986102 | 0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs6991773 | 0.89[ASN][1000 genomes] |
rs6991783 | 0.89[ASN][1000 genomes] |
rs6993706 | 0.81[CHB][hapmap];0.91[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes] |
rs7000162 | 0.86[ASN][1000 genomes] |
rs7001282 | 0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7005592 | 0.94[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap];1.00[ASN][1000 genomes] |
rs7005699 | 0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7008465 | 0.81[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes] |
rs7014327 | 0.88[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes] |
rs7014823 | 0.89[ASN][1000 genomes] |
rs7015858 | 0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes] |
rs71499040 | 0.87[ASN][1000 genomes] |
rs730377 | 0.93[ASN][1000 genomes] |
rs730379 | 0.93[ASN][1000 genomes] |
rs7341635 | 0.88[ASN][1000 genomes] |
rs7459507 | 0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs7460230 | 0.96[ASN][1000 genomes] |
rs7460287 | 0.93[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs7460365 | 0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs7460866 | 0.90[ASN][1000 genomes] |
rs7460972 | 0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes] |
rs7461159 | 0.88[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes] |
rs7461259 | 0.94[ASN][1000 genomes] |
rs7461600 | 0.86[ASN][1000 genomes] |
rs7463876 | 0.80[AMR][1000 genomes];0.94[ASN][1000 genomes] |
rs7463879 | 0.80[AMR][1000 genomes];0.92[ASN][1000 genomes] |
rs7465178 | 0.86[ASN][1000 genomes] |
rs7818406 | 0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs7822816 | 0.80[AMR][1000 genomes];0.91[ASN][1000 genomes] |
rs7827009 | 0.81[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes] |
rs7827285 | 0.81[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.82[ASN][1000 genomes] |
rs7828950 | 0.81[AMR][1000 genomes];0.94[ASN][1000 genomes] |
rs7838456 | 0.93[ASN][1000 genomes] |
rs7842425 | 1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes] |
rs7845723 | 0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap] |
rs7846610 | 1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes] |
rs9022 | 0.80[AMR][1000 genomes];0.96[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv889697 | chr8:1238564-1861971 | Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 17 gene(s) | inside rSNPs | diseases |
2 | nsv1031375 | chr8:1320657-1722050 | Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNA | 11 gene(s) | inside rSNPs | diseases |
3 | nsv889704 | chr8:1563904-1965389 | Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 18 gene(s) | inside rSNPs | diseases |
4 | nsv889707 | chr8:1581839-1920461 | Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 16 gene(s) | inside rSNPs | diseases |
5 | nsv889708 | chr8:1581839-1965389 | Genic enhancers Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 17 gene(s) | inside rSNPs | diseases |
6 | nsv889709 | chr8:1581839-1965389 | Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 17 gene(s) | inside rSNPs | diseases |
7 | nsv889711 | chr8:1591412-1904157 | Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 14 gene(s) | inside rSNPs | diseases |
8 | nsv889712 | chr8:1591412-2337777 | Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 22 gene(s) | inside rSNPs | diseases |
9 | nsv889714 | chr8:1616718-1965389 | Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 17 gene(s) | inside rSNPs | diseases |
10 | nsv934075 | chr8:1626857-1736355 | Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
11 | nsv1034490 | chr8:1654716-1782467 | Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 10 gene(s) | inside rSNPs | diseases |
12 | nsv609527 | chr8:1681733-1753497 | Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 8 gene(s) | inside rSNPs | diseases |
13 | nsv870096 | chr8:1682851-1767342 | Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 9 gene(s) | inside rSNPs | diseases |
14 | nsv465274 | chr8:1685064-1728292 | Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
15 | nsv609528 | chr8:1685064-1728292 | Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 8 gene(s) | inside rSNPs | diseases |
16 | nsv532892 | chr8:1687433-1839578 | Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNAmiRNA target site | 11 gene(s) | inside rSNPs | diseases |
17 | esv2755149 | chr8:1689290-1755281 | Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 8 gene(s) | inside rSNPs | diseases |
18 | nsv465275 | chr8:1697086-1768004 | Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 9 gene(s) | inside rSNPs | diseases |
19 | nsv609529 | chr8:1697086-1768004 | Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 9 gene(s) | inside rSNPs | diseases |
20 | nsv465276 | chr8:1701432-1777571 | Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 10 gene(s) | inside rSNPs | diseases |
21 | nsv609530 | chr8:1701432-1777571 | Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA | 10 gene(s) | inside rSNPs | diseases |
SNP | Gene | Cis/trans | Tissue | Source |
---|---|---|---|---|
rs7844748 | CTD-2336O2.1 | cis | Artery Tibial | GTEx |
rs7844748 | CTD-2336O2.1 | cis | Adipose Subcutaneous | GTEx |
rs7844748 | CLN8 | cis | cerebellum | SCAN |
rs7844748 | CTD-2336O2.1 | cis | Nerve Tibial | GTEx |
rs7844748 | CTD-2336O2.1 | cis | lung | GTEx |
rs7844748 | CTD-2336O2.1 | cis | Muscle Skeletal | GTEx |
rs7844748 | CTD-2336O2.1 | cis | Thyroid | GTEx |
rs7844748 | CLN8 | cis | parietal | SCAN |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr8:1692600-1707400 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
2 | chr8:1694400-1702400 | Weak transcription | HUES48 Cell Line | embryonic stem cell |
3 | chr8:1694400-1702400 | Weak transcription | iPS-15b Cell Line | embryonic stem cell |
4 | chr8:1695200-1703400 | Weak transcription | HSMMtube | muscle |
5 | chr8:1695200-1703400 | Weak transcription | NH-A | brain |
6 | chr8:1695400-1702800 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
7 | chr8:1695400-1703000 | Weak transcription | Foreskin Fibroblast Primary Cells skin02 | Skin |
8 | chr8:1695400-1703000 | Weak transcription | Placenta | Placenta |
9 | chr8:1700200-1708200 | Weak transcription | Pancreas | Pancrea |
10 | chr8:1701200-1703200 | Enhancers | K562 | blood |
11 | chr8:1701400-1703000 | Weak transcription | A549 | lung |
12 | chr8:1702200-1702400 | Enhancers | iPS DF 19.11 Cell Line | embryonic stem cell |
13 | chr8:1702200-1702600 | Bivalent Enhancer | HepG2 | liver |