Variant report

Variant	rs12264987
Chromosome Location	chr10:91985745-91985746
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10881768	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11186066	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11186067	0.93[ASN][1000 genomes]
rs11186068	0.93[ASN][1000 genomes]
rs11186069	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11186070	0.95[ASN][1000 genomes]
rs11186071	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11186072	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11186074	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11186075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11186076	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11186077	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11186078	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11186079	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11186080	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11186081	0.92[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11186083	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11186084	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11186087	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11186091	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12243244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12243683	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12246566	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12251131	0.95[ASN][1000 genomes]
rs12256958	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12261084	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12261875	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12265212	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1575851	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17091991	0.95[ASN][1000 genomes]
rs17092424	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1854462	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41485344	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7093513	0.95[ASN][1000 genomes]
rs7093821	0.86[ASN][1000 genomes]
rs7093890	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74148508	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7901092	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7909922	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7918105	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9971085	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv1043571	chr10:91568555-92036154	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv551874	chr10:91570211-92036154	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv949678	chr10:91589048-92016474	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv895883	chr10:91610601-92195828	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1039731	chr10:91645718-92198264	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv540743	chr10:91645718-92198264	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv467430	chr10:91681344-92297943	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv551875	chr10:91681344-92297943	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	esv3375393	chr10:91880933-92243227	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv895885	chr10:91912493-91988922	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv2422237	chr10:91940542-92547558	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91978000-91986200	Weak transcription	Aorta	Aorta
2	chr10:91983000-91986000	Weak transcription	NH-A	brain
3	chr10:91983000-91986400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr10:91983200-91986000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr10:91983200-91986200	Weak transcription	HUVEC	blood vessel
6	chr10:91983200-91986800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr10:91984000-91986000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr10:91984000-91986200	Weak transcription	NHEK	skin
9	chr10:91984600-91986000	Weak transcription	HMEC	breast
10	chr10:91985000-91986600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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