Variant report

Variant	rs11610442
Chromosome Location	chr12:50778752-50778753
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10735825	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10747580	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10747581	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10783362	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10876030	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10876034	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11169427	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11169440	0.84[EUR][1000 genomes]
rs12578525	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12824882	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17119778	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4238104	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4298982	0.91[EUR][1000 genomes]
rs4351895	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4768877	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4768878	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4768879	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4768880	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4768928	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4768936	0.82[AMR][1000 genomes]
rs6580753	0.82[AMR][1000 genomes]
rs6580754	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7133488	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7135159	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7138063	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7295610	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7295698	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7296212	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7299321	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7300828	0.86[ASN][1000 genomes]
rs7304017	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7310094	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7957033	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7965165	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7978625	0.95[AMR][1000 genomes];0.90[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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