Variant report

Variant	rs916614
Chromosome Location	chr7:126539911-126539912
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:126085913-126088095..7:126537894-126544517	GM12878	blood:
2	7:126537894-126544517..7:126890676-126899918	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000179603	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1003037	1.00[JPT][hapmap]
rs10229548	1.00[CHB][hapmap]
rs10243157	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs10246394	1.00[CHB][hapmap]
rs10252394	1.00[CHB][hapmap]
rs10267279	1.00[CHB][hapmap]
rs10267858	1.00[CHB][hapmap]
rs1154326	1.00[JPT][hapmap]
rs1154333	1.00[JPT][hapmap]
rs1155655	1.00[CHB][hapmap]
rs1155657	1.00[JPT][hapmap]
rs1204553	1.00[JPT][hapmap]
rs1204554	1.00[JPT][hapmap]
rs1204556	1.00[JPT][hapmap]
rs1204558	1.00[JPT][hapmap]
rs1204559	1.00[JPT][hapmap]
rs1204560	1.00[JPT][hapmap]
rs1204561	1.00[JPT][hapmap]
rs1204562	1.00[JPT][hapmap]
rs1204564	0.94[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.80[TSI][hapmap]
rs1204565	1.00[JPT][hapmap]
rs1204566	1.00[JPT][hapmap]
rs1204568	1.00[JPT][hapmap]
rs1204570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1204572	1.00[JPT][hapmap]
rs1204574	1.00[JPT][hapmap]
rs1204582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1204585	1.00[JPT][hapmap]
rs1204589	1.00[JPT][hapmap]
rs1204590	1.00[JPT][hapmap]
rs1204595	1.00[JPT][hapmap]
rs1419457	1.00[JPT][hapmap]
rs1419463	1.00[JPT][hapmap]
rs1419466	1.00[JPT][hapmap]
rs1419509	1.00[CHB][hapmap]
rs17864092	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17867725	0.94[GIH][hapmap];0.94[MEX][hapmap];0.80[TSI][hapmap]
rs2021162	1.00[JPT][hapmap]
rs2109740	1.00[JPT][hapmap]
rs2518948	1.00[JPT][hapmap]
rs2518956	1.00[JPT][hapmap]
rs2518959	1.00[JPT][hapmap]
rs2535928	1.00[JPT][hapmap]
rs2535937	1.00[JPT][hapmap]
rs2896388	1.00[JPT][hapmap]
rs6946530	1.00[CHB][hapmap]
rs963843	0.81[MEX][hapmap]
rs971789	1.00[CHB][hapmap]
rs974441	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs994783	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529300	chr7:125669493-126587858	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1032938	chr7:126067684-126587859	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv539119	chr7:126067684-126587859	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv608376	chr7:126457779-126571077	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2758132	chr7:126494789-126677843	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2759562	chr7:126494789-126677843	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv427805	chr7:126494789-126677843	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv1849599	chr7:126507755-126557892	Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv981575	chr7:126520557-126563439	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv16629	chr7:126531997-126552956	Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv5940	chr7:126535731-126580660	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs916614	LOC407835	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126537400-126540800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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