Variant report

Variant	rs699683
Chromosome Location	chr1:76172512-76172513
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:76171538..76176296-chr1:76182594..76187669,7	K562	blood:
2	chr1:76171242..76173918-chr1:76251777..76253452,2	MCF-7	breast:
3	chr1:76171640..76173855-chr1:76188377..76192246,4	K562	blood:
4	chr1:76171478..76174682-chr1:76188816..76193676,7	K562	blood:

Variant related genes	Relation type
ENSG00000137955	Chromatin interaction
ENSG00000117054	Chromatin interaction
ENSG00000178193	Chromatin interaction
ENSG00000206620	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10873727	0.81[ASN][1000 genomes]
rs10873728	0.81[ASN][1000 genomes]
rs10873738	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs10873739	0.81[ASN][1000 genomes]
rs1093006	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1093009	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1093011	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11161447	0.83[JPT][hapmap]
rs11161465	0.86[JPT][hapmap]
rs11161700	0.81[ASN][1000 genomes]
rs11161704	0.85[ASN][1000 genomes]
rs1144328	0.90[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1144331	0.91[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs1144333	0.90[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs1144337	0.90[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs1144338	0.81[ASN][1000 genomes]
rs1144339	0.85[ASN][1000 genomes]
rs1144341	0.85[ASN][1000 genomes]
rs1144342	0.91[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs1146572	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1146577	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1146587	0.85[ASN][1000 genomes]
rs1146592	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1146593	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1146602	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1146613	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1146616	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1146625	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1146642	1.00[YRI][hapmap]
rs1146645	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1146647	0.90[CHB][hapmap];0.85[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1146648	0.86[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs1146649	0.91[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1146651	0.91[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs1146652	0.91[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1146656	0.81[ASN][1000 genomes]
rs11579355	0.80[ASN][1000 genomes]
rs12022011	0.90[JPT][hapmap]
rs12032051	0.83[JPT][hapmap]
rs12045299	0.86[JPT][hapmap]
rs12076093	0.86[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs12078151	0.81[ASN][1000 genomes]
rs12081710	0.81[ASN][1000 genomes]
rs12090712	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs12385715	0.81[ASN][1000 genomes]
rs12401729	0.86[CHB][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs12403889	0.81[ASN][1000 genomes]
rs12405178	0.81[ASN][1000 genomes]
rs1250875	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1250876	0.86[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs1250877	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1250878	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1250880	0.86[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs1250882	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1251065	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1251077	0.87[ASN][1000 genomes]
rs1251078	0.87[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1251079	0.86[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1251270	0.85[ASN][1000 genomes]
rs1251272	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs1251273	0.85[ASN][1000 genomes]
rs1251274	0.85[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs1251275	0.81[ASN][1000 genomes]
rs12703	0.91[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12732722	0.86[JPT][hapmap]
rs12744608	0.82[JPT][hapmap]
rs12745456	0.82[JPT][hapmap]
rs1323734	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1498313	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs1603734	0.87[CHB][hapmap]
rs1621198	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1631498	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1694428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1767457	0.83[ASN][1000 genomes]
rs1767459	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1770512	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1770513	0.94[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1812589	0.81[ASN][1000 genomes]
rs1960528	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2012536	0.85[ASN][1000 genomes]
rs2788655	0.83[ASN][1000 genomes]
rs34045364	0.80[ASN][1000 genomes]
rs34177389	0.80[ASN][1000 genomes]
rs35591768	0.80[ASN][1000 genomes]
rs3765682	0.86[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap]
rs4949884	0.81[ASN][1000 genomes]
rs5019550	0.81[ASN][1000 genomes]
rs56350137	0.81[ASN][1000 genomes]
rs5745321	1.00[YRI][hapmap]
rs5745327	0.91[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs5745343	0.90[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs5745354	0.85[CHB][hapmap];0.80[JPT][hapmap];0.85[ASN][1000 genomes]
rs5745392	0.91[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs5745465	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs5745542	0.87[CHB][hapmap]
rs61676733	0.81[ASN][1000 genomes]
rs6695055	0.83[JPT][hapmap]
rs696677	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs696679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs699677	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs699824	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs699825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7514912	0.87[CHB][hapmap];0.80[ASN][1000 genomes]
rs7516477	0.86[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs7548391	0.87[CHB][hapmap];0.80[ASN][1000 genomes]
rs7548991	0.86[JPT][hapmap]
rs814851	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs814855	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs814873	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs814874	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs814897	0.85[ASN][1000 genomes]
rs815303	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs815309	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9660848	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757737	chr1:75986904-76187748	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2758943	chr1:75986904-76187748	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv427675	chr1:76070382-76187748	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv870520	chr1:76088392-76206490	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv871572	chr1:76161889-76208488	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76172400-76173600	Enhancers	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links