Variant report

Variant	rs4286083
Chromosome Location	chr15:39788481-39788482
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10459586	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10520130	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11070206	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11070207	0.97[ASN][1000 genomes]
rs1158915	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1158916	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1158917	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11854059	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11854786	0.87[EUR][1000 genomes]
rs11855535	0.87[EUR][1000 genomes]
rs11855543	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11855977	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11855990	0.97[ASN][1000 genomes]
rs11857970	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12148631	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1551945	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16952151	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16969038	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16969104	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3889532	1.00[ASN][1000 genomes]
rs4923830	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4924362	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5028679	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56839831	0.88[ASN][1000 genomes]
rs56869025	0.88[ASN][1000 genomes]
rs57248361	0.88[ASN][1000 genomes]
rs58417285	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61648928	0.88[ASN][1000 genomes]
rs7171584	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73393497	0.88[ASN][1000 genomes]
rs8025111	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8032303	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8034569	0.86[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	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904094	chr15:39738006-39976057	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39781400-39792200	Weak transcription	Right Atrium	heart
2	chr15:39782200-39789000	Weak transcription	Fetal Kidney	kidney
3	chr15:39783600-39788800	Weak transcription	Aorta	Aorta
4	chr15:39785000-39788800	Weak transcription	Pancreas	Pancrea
5	chr15:39787000-39789800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr15:39787000-39789800	Weak transcription	K562	blood
7	chr15:39787800-39788600	Enhancers	HMEC	breast
8	chr15:39787800-39788600	Enhancers	NHEK	skin
9	chr15:39787800-39788800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:39787800-39789000	Enhancers	Fetal Lung	lung
11	chr15:39787800-39792200	Enhancers	Ovary	ovary
12	chr15:39788000-39789000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:39788000-39789200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
14	chr15:39788000-39789200	Enhancers	NHLF	lung
15	chr15:39788000-39789400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:39788000-39790600	Enhancers	HSMM	muscle
17	chr15:39788000-39791400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:39788000-39791600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr15:39788000-39791800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr15:39788000-39791800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr15:39788000-39792000	Enhancers	Stomach Smooth Muscle	stomach
22	chr15:39788000-39794000	Enhancers	NHDF-Ad	bronchial
23	chr15:39788000-39795400	Enhancers	Fetal Stomach	stomach
24	chr15:39788200-39788800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr15:39788200-39788800	Weak transcription	Placenta	Placenta
26	chr15:39788200-39789000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr15:39788200-39789000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr15:39788200-39789000	Enhancers	Right Ventricle	heart
29	chr15:39788200-39789200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr15:39788200-39790000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr15:39788200-39790400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr15:39788200-39790400	Enhancers	Fetal Muscle Trunk	muscle
33	chr15:39788200-39790800	Enhancers	Thymus	Thymus
34	chr15:39788200-39791400	Enhancers	Adipose Nuclei	Adipose
35	chr15:39788200-39791600	Enhancers	Fetal Heart	heart
36	chr15:39788200-39791600	Enhancers	Osteobl	bone
37	chr15:39788200-39792400	Enhancers	Rectal Smooth Muscle	rectum
38	chr15:39788200-39792800	Enhancers	Fetal Muscle Leg	muscle
39	chr15:39788200-39795400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:39788400-39788800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr15:39788400-39788800	Weak transcription	Left Ventricle	heart
42	chr15:39788400-39789600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:39788400-39790800	Enhancers	HSMMtube	muscle
44	chr15:39788400-39791600	Enhancers	Placenta Amnion	Placenta Amnion
45	chr15:39788400-39792200	Enhancers	Colon Smooth Muscle	Colon

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