Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10803742	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10929777	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10929780	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10929782	0.83[EUR][1000 genomes]
rs11677651	0.94[ASN][1000 genomes]
rs11692044	0.85[ASN][1000 genomes]
rs12471113	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12471545	0.94[ASN][1000 genomes]
rs13002221	0.94[ASN][1000 genomes]
rs1440037	0.86[ASN][1000 genomes]
rs1808849	0.85[ASN][1000 genomes]
rs2380410	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4600620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4668745	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4669797	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs4669798	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7588279	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7588390	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7594009	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7596479	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv999704	chr2:12153766-12243960	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1005069	chr2:12161023-12242734	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1000696	chr2:12162843-12241022	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv961383	chr2:12162851-12165588	Enhancers ZNF genes & repeats Weak transcription	lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12155000-12164000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:12162600-12164000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:12163400-12164600	Enhancers	NHDF-Ad	bronchial
4	chr2:12163600-12164400	Enhancers	Fetal Heart	heart
5	chr2:12163600-12164600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:12163600-12165000	Enhancers	HSMM	muscle
7	chr2:12163600-12165000	Enhancers	HSMMtube	muscle
8	chr2:12163800-12164600	Enhancers	HMEC	breast
9	chr2:12163800-12165000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:12163800-12165000	Enhancers	Osteobl	bone

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