Variant report

Variant	rs12594863
Chromosome Location	chr15:59630804-59630805
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10851649	0.81[AMR][1000 genomes]
rs12441049	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12900651	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12910332	0.91[ASN][1000 genomes]
rs35759362	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4775152	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61179012	0.88[ASN][1000 genomes]
rs62002504	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7163858	0.82[AMR][1000 genomes]

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	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv934082	chr15:59608605-59733211	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv457175	chr15:59609753-59681214	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv569603	chr15:59609753-59681214	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv471246	chr15:59610743-59681214	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	esv1794268	chr15:59614874-59637355	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv904274	chr15:59623576-59689378	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59606800-59631600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr15:59622600-59631800	Weak transcription	Colon Smooth Muscle	Colon
3	chr15:59623200-59631400	Weak transcription	Right Ventricle	heart
4	chr15:59623200-59662800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr15:59623400-59641200	Weak transcription	Aorta	Aorta
6	chr15:59623400-59643800	Weak transcription	Lung	lung
7	chr15:59623600-59636400	Weak transcription	Psoas Muscle	Psoas
8	chr15:59624400-59637800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:59624600-59650000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr15:59624800-59631400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr15:59625000-59636600	Weak transcription	Fetal Intestine Small	intestine
12	chr15:59626000-59632600	Weak transcription	NHLF	lung
13	chr15:59626400-59631600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:59626400-59641400	Weak transcription	HUVEC	blood vessel
15	chr15:59626400-59642400	Weak transcription	Pancreas	Pancrea
16	chr15:59626800-59631400	Weak transcription	Liver	Liver
17	chr15:59627000-59631600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr15:59627800-59631000	Weak transcription	NHEK	skin
19	chr15:59628000-59631400	Weak transcription	Brain Anterior Caudate	brain
20	chr15:59628000-59631600	Weak transcription	Fetal Heart	heart
21	chr15:59628000-59631600	Weak transcription	NH-A	brain
22	chr15:59628000-59637800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr15:59628200-59631400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:59628200-59631400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr15:59628200-59631400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr15:59628200-59631400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr15:59628200-59631400	Weak transcription	HSMM	muscle
28	chr15:59628200-59631400	Weak transcription	HSMMtube	muscle
29	chr15:59628200-59631600	Weak transcription	Brain Substantia Nigra	brain
30	chr15:59628200-59631800	Weak transcription	Brain Angular Gyrus	brain
31	chr15:59628400-59637800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr15:59628600-59631200	Weak transcription	Brain Hippocampus Middle	brain
33	chr15:59628600-59639200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:59630000-59632600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:59630400-59632800	Enhancers	NHDF-Ad	bronchial
36	chr15:59630600-59631400	Genic enhancers	GM12878-XiMat	blood
37	chr15:59630600-59631600	Enhancers	A549	lung
38	chr15:59630600-59632600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:59630600-59632600	Enhancers	Osteobl	bone
40	chr15:59630600-59632800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr15:59630600-59632800	Enhancers	HepG2	liver
42	chr15:59630800-59631000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr15:59630800-59631000	Enhancers	Left Ventricle	heart
44	chr15:59630800-59631000	Enhancers	Rectal Smooth Muscle	rectum
45	chr15:59630800-59631200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr15:59630800-59631200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr15:59630800-59631400	Weak transcription	Hela-S3	cervix
48	chr15:59630800-59631600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr15:59630800-59632800	Enhancers	HMEC	breast

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