Variant report

Variant	rs731976
Chromosome Location	chr2:151889492-151889493
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:151883308..151884879-chr2:151887894..151890607,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs12151382	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12692891	0.85[EUR][1000 genomes]
rs12986591	0.87[EUR][1000 genomes]
rs12988085	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12989382	0.82[EUR][1000 genomes]
rs12991256	0.82[EUR][1000 genomes]
rs12992982	0.88[EUR][1000 genomes]
rs12994047	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12994178	0.84[EUR][1000 genomes]
rs12995446	0.86[EUR][1000 genomes]
rs13001965	0.82[EUR][1000 genomes]
rs13003276	0.88[EUR][1000 genomes]
rs13006345	0.89[EUR][1000 genomes]
rs13009161	0.83[EUR][1000 genomes]
rs13009389	0.83[EUR][1000 genomes]
rs13010850	0.86[EUR][1000 genomes]
rs13016337	0.86[EUR][1000 genomes]
rs13016725	0.86[EUR][1000 genomes]
rs13018464	0.86[EUR][1000 genomes]
rs13019269	0.83[EUR][1000 genomes]
rs13022902	0.80[EUR][1000 genomes]
rs13022926	0.86[EUR][1000 genomes]
rs13023089	0.86[EUR][1000 genomes]
rs13023613	0.83[EUR][1000 genomes]
rs13027517	0.83[EUR][1000 genomes]
rs13028601	0.86[EUR][1000 genomes]
rs13028980	1.00[CEU][hapmap];0.83[CHB][hapmap];0.88[EUR][1000 genomes]
rs13029883	0.95[CEU][hapmap];0.82[CHB][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13030344	0.89[EUR][1000 genomes]
rs13030392	0.90[EUR][1000 genomes]
rs13034876	0.89[EUR][1000 genomes]
rs13036251	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1580440	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1601356	0.83[EUR][1000 genomes]
rs16829095	0.83[EUR][1000 genomes]
rs1859722	0.82[EUR][1000 genomes]
rs2108198	0.86[EUR][1000 genomes]
rs2108199	0.84[EUR][1000 genomes]
rs2341928	0.83[EUR][1000 genomes]
rs2341929	0.86[EUR][1000 genomes]
rs2341930	0.86[EUR][1000 genomes]
rs2341931	0.81[EUR][1000 genomes]
rs34018967	0.87[EUR][1000 genomes]
rs34113888	0.86[EUR][1000 genomes]
rs34372555	0.88[EUR][1000 genomes]
rs34398830	0.89[EUR][1000 genomes]
rs34462888	0.88[EUR][1000 genomes]
rs35967096	0.86[EUR][1000 genomes]
rs57201384	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6433123	0.80[ASN][1000 genomes]
rs66919845	0.81[EUR][1000 genomes]
rs67547706	0.86[EUR][1000 genomes]
rs990127	0.89[EUR][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	nsv525350	chr2:151711700-152044794	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1002140	chr2:151833257-152054910	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151887600-151890400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:151888400-151890800	Enhancers	NHDF-Ad	bronchial
3	chr2:151888400-151891200	Enhancers	Fetal Stomach	stomach
4	chr2:151888600-151890400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:151888600-151890800	Enhancers	Fetal Brain Female	brain
6	chr2:151888600-151890800	Enhancers	NHLF	lung
7	chr2:151888800-151890000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:151888800-151890200	Enhancers	Fetal Muscle Leg	muscle
9	chr2:151888800-151890400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:151888800-151890400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:151888800-151890600	Enhancers	Osteobl	bone
12	chr2:151888800-151891000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:151889000-151890800	Enhancers	Fetal Lung	lung
14	chr2:151889200-151890000	Enhancers	Liver	Liver
15	chr2:151889200-151890000	Enhancers	Stomach Smooth Muscle	stomach
16	chr2:151889200-151890200	Enhancers	Colon Smooth Muscle	Colon
17	chr2:151889200-151890400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:151889400-151890400	Weak transcription	Fetal Brain Male	brain
19	chr2:151889400-151890600	Enhancers	Fetal Heart	heart
20	chr2:151889400-151890600	Enhancers	Rectal Smooth Muscle	rectum

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