Variant report

Variant	rs6971116
Chromosome Location	chr7:19126700-19126701
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10216193	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10224508	1.00[ASN][1000 genomes]
rs10228000	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10228944	1.00[ASN][1000 genomes]
rs10229075	1.00[ASN][1000 genomes]
rs10229095	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235982	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10240640	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10248134	0.92[EUR][1000 genomes]
rs10248747	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249481	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10251015	1.00[ASN][1000 genomes]
rs10251141	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10251600	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253091	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10256989	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10263856	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10266725	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10268126	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10268428	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10270625	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10274013	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279195	1.00[EUR][1000 genomes]
rs10279917	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971269	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974081	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974849	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11975276	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11975863	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11976041	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11980713	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981268	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981966	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17140565	1.00[EUR][1000 genomes]
rs17140629	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17423728	1.00[EUR][1000 genomes]
rs2717334	1.00[ASN][1000 genomes]
rs28399914	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28572026	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28579949	1.00[EUR][1000 genomes]
rs28611415	1.00[ASN][1000 genomes]
rs28627595	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28720702	1.00[EUR][1000 genomes]
rs28753114	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28797565	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28803198	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28820332	1.00[EUR][1000 genomes]
rs2892914	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60744788	1.00[ASN][1000 genomes]
rs60781112	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6943143	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945718	1.00[EUR][1000 genomes]
rs6948617	1.00[ASN][1000 genomes]
rs6950144	1.00[EUR][1000 genomes]
rs6953130	1.00[ASN][1000 genomes]
rs6960648	1.00[EUR][1000 genomes]
rs6964820	1.00[EUR][1000 genomes]
rs6965235	1.00[EUR][1000 genomes]
rs6970557	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6972974	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv531020	chr7:18971153-19261019	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032503	chr7:19092460-19134995	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1032126	chr7:19092460-19137228	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv2761116	chr7:19092472-19136307	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv532096	chr7:19094324-19361216	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv519024	chr7:19103926-19134119	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv532097	chr7:19105767-19302951	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19119000-19134200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:19119200-19129000	Weak transcription	NHDF-Ad	bronchial
3	chr7:19119200-19146000	Weak transcription	HSMM	muscle
4	chr7:19119600-19128800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:19120400-19129200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:19126000-19126800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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