Variant report

Variant	rs12937472
Chromosome Location	chr17:15253565-15253566
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs230888	0.87[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs230889	0.92[JPT][hapmap]
rs230901	0.88[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs230903	0.82[ASN][1000 genomes]
rs230904	0.87[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs230906	0.82[ASN][1000 genomes]
rs230907	0.88[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs230909	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs230910	0.88[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs230970	0.86[ASN][1000 genomes]
rs230977	0.88[ASN][1000 genomes]
rs2531955	0.92[JPT][hapmap]
rs2875118	0.89[ASN][1000 genomes]
rs34174662	0.89[ASN][1000 genomes]
rs36023606	0.89[ASN][1000 genomes]
rs364785	0.85[ASN][1000 genomes]
rs372882	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs3744333	1.00[ASW][hapmap]
rs394106	0.88[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs395945	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs396445	0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs396895	0.82[ASN][1000 genomes]
rs399666	0.88[CHB][hapmap];0.92[JPT][hapmap]
rs401664	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs406112	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs414494	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs417637	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs427476	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs427531	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs433068	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs433993	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs446597	0.88[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs450848	0.82[ASN][1000 genomes]
rs561167	0.82[ASN][1000 genomes]
rs609537	0.82[ASN][1000 genomes]
rs740649	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066329	chr17:14983674-15294071	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543212	chr17:14983674-15294071	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv907703	chr17:15199907-15370701	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv949172	chr17:15206970-15416808	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15246400-15254600	Weak transcription	Placenta	Placenta
2	chr17:15247600-15255000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr17:15248000-15254400	Weak transcription	NHDF-Ad	bronchial
4	chr17:15249000-15254000	Enhancers	Fetal Intestine Small	intestine
5	chr17:15249800-15255000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr17:15251600-15254200	Weak transcription	Brain Substantia Nigra	brain
7	chr17:15251600-15254200	Weak transcription	Fetal Lung	lung
8	chr17:15251600-15254800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr17:15251600-15254800	Enhancers	Colon Smooth Muscle	Colon
10	chr17:15251600-15254800	Weak transcription	Fetal Stomach	stomach
11	chr17:15251800-15254600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr17:15251800-15254600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr17:15251800-15254600	Weak transcription	Adipose Nuclei	Adipose
14	chr17:15251800-15254800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr17:15251800-15254800	Weak transcription	Osteobl	bone
16	chr17:15251800-15255000	Weak transcription	HMEC	breast
17	chr17:15252000-15254200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr17:15252000-15254600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr17:15252000-15254800	Weak transcription	Psoas Muscle	Psoas
20	chr17:15252000-15254800	Weak transcription	A549	lung
21	chr17:15252200-15254800	Weak transcription	Colonic Mucosa	Colon
22	chr17:15252400-15254600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr17:15252400-15254800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr17:15252400-15255000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr17:15252400-15255000	Weak transcription	Small Intestine	intestine
26	chr17:15252600-15253600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr17:15252600-15254200	Weak transcription	NHEK	skin
28	chr17:15252800-15253600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr17:15252800-15253600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr17:15252800-15254800	Weak transcription	Hela-S3	cervix
31	chr17:15253200-15255000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr17:15253400-15254600	Weak transcription	Fetal Intestine Large	intestine

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