Variant report

Variant	rs7309896
Chromosome Location	chr12:50775456-50775457
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10083076	1.00[EUR][1000 genomes]
rs10431531	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10431532	1.00[EUR][1000 genomes]
rs10431533	1.00[EUR][1000 genomes]
rs10732734	1.00[EUR][1000 genomes]
rs10747576	1.00[EUR][1000 genomes]
rs10747582	1.00[EUR][1000 genomes]
rs10783355	1.00[EUR][1000 genomes]
rs10783360	1.00[EUR][1000 genomes]
rs10876029	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10876040	1.00[EUR][1000 genomes]
rs11169464	1.00[EUR][1000 genomes]
rs12146806	1.00[EUR][1000 genomes]
rs12300290	1.00[EUR][1000 genomes]
rs12302812	1.00[EUR][1000 genomes]
rs12321891	1.00[EUR][1000 genomes]
rs12322925	1.00[EUR][1000 genomes]
rs12367373	1.00[EUR][1000 genomes]
rs12426847	1.00[AMR][1000 genomes]
rs2253376	1.00[EUR][1000 genomes]
rs2731438	1.00[EUR][1000 genomes]
rs2731448	1.00[EUR][1000 genomes]
rs4238103	1.00[EUR][1000 genomes]
rs4259895	1.00[EUR][1000 genomes]
rs4293196	1.00[EUR][1000 genomes]
rs4334109	1.00[EUR][1000 genomes]
rs4435082	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4477515	0.82[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4491331	1.00[EUR][1000 genomes]
rs4590959	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4617660	1.00[EUR][1000 genomes]
rs4625558	1.00[EUR][1000 genomes]
rs4768854	1.00[EUR][1000 genomes]
rs4768896	1.00[EUR][1000 genomes]
rs4768897	1.00[EUR][1000 genomes]
rs4768898	1.00[EUR][1000 genomes]
rs4768916	1.00[EUR][1000 genomes]
rs6421169	1.00[EUR][1000 genomes]
rs6580746	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6580749	1.00[EUR][1000 genomes]
rs6580750	1.00[EUR][1000 genomes]
rs6580758	1.00[EUR][1000 genomes]
rs6580759	1.00[EUR][1000 genomes]
rs7133107	1.00[EUR][1000 genomes]
rs7296277	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs7302222	1.00[EUR][1000 genomes]
rs7304951	1.00[EUR][1000 genomes]
rs7305972	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7309410	1.00[EUR][1000 genomes]
rs7310522	1.00[EUR][1000 genomes]
rs7310686	1.00[EUR][1000 genomes]
rs7312349	1.00[EUR][1000 genomes]
rs7313783	1.00[EUR][1000 genomes]
rs7314198	1.00[EUR][1000 genomes]
rs7954152	1.00[EUR][1000 genomes]
rs7963866	1.00[EUR][1000 genomes]
rs7964439	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7966009	1.00[EUR][1000 genomes]
rs9634263	1.00[EUR][1000 genomes]
rs9804978	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
2	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv1035796	chr12:50634342-50784312	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv1053667	chr12:50679039-50801752	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv1054480	chr12:50691039-50859665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv1041563	chr12:50705715-50861699	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv899076	chr12:50770291-50869589	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50767200-50780800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:50770200-50783400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:50774200-50781200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:50775000-50781400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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