Variant report

Variant	rs17773016
Chromosome Location	chr2:47027484-47027485
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47027359..47029514-chr2:47035848..47037953,2	K562	blood:
2	chr2:47027472..47029514-chr2:47036453..47038625,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10495937	1.00[ASN][1000 genomes]
rs1446496	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1446497	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1446498	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17035524	1.00[ASN][1000 genomes]
rs17035709	0.80[CEU][hapmap]
rs17771017	0.80[CEU][hapmap]
rs17771098	1.00[ASN][1000 genomes]
rs17771201	1.00[ASN][1000 genomes]
rs17771942	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17772285	0.86[AMR][1000 genomes]
rs17821989	0.86[AMR][1000 genomes]
rs17822782	0.86[AMR][1000 genomes]
rs17823065	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17823581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17824594	1.00[ASW][hapmap];0.80[CEU][hapmap];1.00[CHB][hapmap]
rs2045290	0.86[AMR][1000 genomes]
rs41453849	0.83[ASN][1000 genomes]
rs55928499	1.00[ASN][1000 genomes]
rs56060227	0.83[ASN][1000 genomes]
rs56199036	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56800355	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57124017	1.00[ASN][1000 genomes]
rs57420323	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58200475	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58362257	0.83[ASN][1000 genomes]
rs58509367	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58903656	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59186028	1.00[ASN][1000 genomes]
rs59785662	1.00[ASN][1000 genomes]
rs59882453	0.83[ASN][1000 genomes]
rs60506146	1.00[ASN][1000 genomes]
rs61075718	0.83[ASN][1000 genomes]
rs61654472	0.83[ASN][1000 genomes]
rs72802420	0.86[AMR][1000 genomes]
rs72802426	0.86[AMR][1000 genomes]
rs72802441	1.00[ASN][1000 genomes]
rs72802445	1.00[ASN][1000 genomes]
rs72802448	0.86[AMR][1000 genomes]
rs72802451	0.86[AMR][1000 genomes]
rs72802454	0.86[AMR][1000 genomes]
rs72802455	0.86[AMR][1000 genomes]
rs72802456	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72802458	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72802462	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72802463	1.00[ASN][1000 genomes]
rs72802464	1.00[ASN][1000 genomes]
rs72802465	1.00[ASN][1000 genomes]
rs72802466	0.86[AMR][1000 genomes]
rs72802467	0.86[AMR][1000 genomes]
rs72802468	0.87[AMR][1000 genomes]
rs72802469	0.87[AMR][1000 genomes]
rs72802470	0.87[AMR][1000 genomes]
rs72802486	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72802487	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72802492	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72802493	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802498	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72802499	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802501	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802502	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72804404	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72804430	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7566275	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7578911	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47019400-47029200	Weak transcription	Aorta	Aorta
2	chr2:47021400-47032600	Weak transcription	Pancreas	Pancrea
3	chr2:47022200-47031000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:47023400-47027800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:47023800-47028200	Enhancers	NHLF	lung
6	chr2:47024600-47029200	Weak transcription	Lung	lung
7	chr2:47025000-47034600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:47025200-47029200	Weak transcription	Right Atrium	heart
9	chr2:47025200-47029400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:47025400-47028400	Weak transcription	Spleen	Spleen
11	chr2:47025400-47028600	Weak transcription	HSMM	muscle
12	chr2:47025400-47029000	Weak transcription	Right Ventricle	heart
13	chr2:47025600-47029200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:47025800-47028000	Weak transcription	Left Ventricle	heart
15	chr2:47025800-47028400	Flanking Active TSS	Osteobl	bone
16	chr2:47026000-47027600	Weak transcription	HMEC	breast
17	chr2:47026200-47029000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:47026400-47027800	Flanking Active TSS	NHDF-Ad	bronchial
19	chr2:47026600-47038800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:47027000-47029200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:47027200-47028200	Enhancers	NH-A	brain
22	chr2:47027200-47029000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:47027200-47030200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr2:47027200-47034800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:47027400-47027600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:47027400-47027800	Enhancers	A549	lung
27	chr2:47027400-47028800	Enhancers	Adipose Nuclei	Adipose
28	chr2:47027400-47031000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:47027400-47032400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:47027400-47034400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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