Variant report

Variant	rs7630443
Chromosome Location	chr3:158123904-158123905
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:158116256..158122460-chr3:158123210..158127846,6	K562	blood:
2	chr3:158120939..158122678-chr3:158123102..158125288,2	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10936133	0.82[CEU][hapmap]
rs10936134	0.81[CEU][hapmap]
rs10936142	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10936146	0.83[CEU][hapmap]
rs11709804	0.82[CEU][hapmap]
rs11710570	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11714869	0.85[CEU][hapmap]
rs11717725	0.82[CEU][hapmap]
rs11719188	0.80[CEU][hapmap]
rs12107103	0.81[CEU][hapmap]
rs12107104	0.82[CEU][hapmap]
rs12494098	0.82[CEU][hapmap]
rs12496767	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs12629125	0.82[CEU][hapmap]
rs12629587	0.82[CEU][hapmap]
rs12631628	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12631675	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12632998	0.81[CEU][hapmap]
rs12633594	0.82[CEU][hapmap]
rs1369562	0.85[CEU][hapmap]
rs1595028	0.81[CEU][hapmap]
rs1978779	0.88[CEU][hapmap]
rs1978781	0.81[CEU][hapmap]
rs2222326	0.82[CEU][hapmap]
rs2362965	0.82[CEU][hapmap]
rs2885663	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs3845981	0.81[CEU][hapmap]
rs4309677	0.81[CEU][hapmap]
rs4324501	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4510417	0.85[CEU][hapmap]
rs4680431	0.81[CEU][hapmap]
rs55705928	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6441188	0.82[CEU][hapmap]
rs6441201	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs6441206	0.81[CEU][hapmap]
rs6767008	0.82[CEU][hapmap]
rs6778202	0.84[CEU][hapmap]
rs6778370	0.82[CEU][hapmap]
rs6783284	0.85[CEU][hapmap]
rs6788703	0.82[CEU][hapmap]
rs6791431	0.82[CEU][hapmap]
rs6795376	0.81[CEU][hapmap]
rs6799272	0.85[ASN][1000 genomes]
rs7610713	0.82[CEU][hapmap]
rs7617165	0.85[ASN][1000 genomes]
rs7620927	0.81[CEU][hapmap]
rs7627374	0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs7632059	0.82[CEU][hapmap]
rs7648196	0.82[CEU][hapmap]
rs7648618	0.81[CEU][hapmap]
rs7650256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs939114	0.82[CEU][hapmap]
rs939117	0.85[CEU][hapmap]
rs9809952	0.81[CEU][hapmap]
rs9810114	0.84[CEU][hapmap]
rs9810887	0.81[CEU][hapmap]
rs9811217	0.82[CEU][hapmap]
rs9819134	0.81[CEU][hapmap]
rs9823076	0.87[CEU][hapmap]
rs9827781	0.81[CEU][hapmap]
rs9835244	0.85[CEU][hapmap]
rs9858318	0.81[CEU][hapmap]
rs9859129	0.81[CEU][hapmap]
rs9867617	0.83[CEU][hapmap]
rs9872889	0.84[EUR][1000 genomes]
rs9876322	0.82[CEU][hapmap]
rs9880806	0.82[CEU][hapmap]
rs9882274	0.82[CEU][hapmap]
rs9883657	0.81[CEU][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	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv877689	chr3:157858930-158133307	Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv916910	chr3:157926799-158183372	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1014381	chr3:158070451-158350118	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1000904	chr3:158094357-158159317	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1004480	chr3:158102068-158129826	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv536776	chr3:158102068-158129826	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7630443	RSRC1	cis	Esophagus Muscularis	GTEx
rs7630443	RP11-538P18.2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158122400-158126000	Weak transcription	Fetal Heart	heart
2	chr3:158123400-158128000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:158123600-158124600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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