Variant report

Variant	rs56057816
Chromosome Location	chr2:12175695-12175696
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10495586	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10495587	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12467999	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12472261	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476424	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478104	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478956	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12479075	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13012119	1.00[ASN][1000 genomes]
rs13026386	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027180	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13029543	0.90[ASN][1000 genomes]
rs2119144	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2380409	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34163220	0.81[EUR][1000 genomes]
rs34587335	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35573038	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35763905	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35875804	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35921314	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35971524	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4129333	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55752546	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55804172	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56159518	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56278051	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62113775	1.00[ASN][1000 genomes]
rs62113776	1.00[ASN][1000 genomes]
rs62116478	0.83[EUR][1000 genomes]
rs727458	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584364	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12171200-12178000	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:12172200-12176000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:12172400-12175800	Weak transcription	K562	blood
4	chr2:12172800-12176000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:12173400-12176600	Enhancers	GM12878-XiMat	blood
6	chr2:12173400-12177600	Enhancers	Primary B cells from cord blood	blood
7	chr2:12174400-12176000	Enhancers	Fetal Muscle Trunk	muscle
8	chr2:12174600-12176000	Enhancers	NHDF-Ad	bronchial
9	chr2:12174800-12175800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:12174800-12177800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr2:12175000-12175800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:12175000-12176000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:12175200-12175800	Enhancers	HSMMtube	muscle
14	chr2:12175200-12177600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:12175400-12175800	Enhancers	Ovary	ovary
16	chr2:12175400-12175800	Enhancers	Osteobl	bone
17	chr2:12175400-12176000	Enhancers	Fetal Thymus	thymus
18	chr2:12175400-12176200	Enhancers	HSMM	muscle
19	chr2:12175400-12176800	Enhancers	Primary T cells fromperipheralblood	blood
20	chr2:12175400-12177800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr2:12175400-12178000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:12175400-12178000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr2:12175600-12176200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:12175600-12177800	Enhancers	Primary T cells from cord blood	blood
25	chr2:12175600-12178000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:12175600-12178000	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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