Variant report

Variant	rs57691031
Chromosome Location	chr15:39790589-39790590
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:39784312..39786766-chr15:39790044..39793415,3	K562	blood:
2	chr15:39788869..39791943-chr15:39792558..39796121,3	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs58779496	0.87[AFR][1000 genomes]
rs60154248	0.83[AFR][1000 genomes]
rs73397331	0.83[AFR][1000 genomes]
rs73397372	0.83[AFR][1000 genomes]
rs73399383	0.91[AFR][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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39781400-39792200	Weak transcription	Right Atrium	heart
2	chr15:39787800-39792200	Enhancers	Ovary	ovary
3	chr15:39788000-39790600	Enhancers	HSMM	muscle
4	chr15:39788000-39791400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr15:39788000-39791600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr15:39788000-39791800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:39788000-39791800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr15:39788000-39792000	Enhancers	Stomach Smooth Muscle	stomach
9	chr15:39788000-39794000	Enhancers	NHDF-Ad	bronchial
10	chr15:39788000-39795400	Enhancers	Fetal Stomach	stomach
11	chr15:39788200-39790800	Enhancers	Thymus	Thymus
12	chr15:39788200-39791400	Enhancers	Adipose Nuclei	Adipose
13	chr15:39788200-39791600	Enhancers	Fetal Heart	heart
14	chr15:39788200-39791600	Enhancers	Osteobl	bone
15	chr15:39788200-39792400	Enhancers	Rectal Smooth Muscle	rectum
16	chr15:39788200-39792800	Enhancers	Fetal Muscle Leg	muscle
17	chr15:39788200-39795400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:39788400-39790800	Enhancers	HSMMtube	muscle
19	chr15:39788400-39791600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr15:39788400-39792200	Enhancers	Colon Smooth Muscle	Colon
21	chr15:39788800-39791000	Enhancers	Fetal Thymus	thymus
22	chr15:39789000-39790800	Weak transcription	Placenta	Placenta
23	chr15:39789000-39791200	Weak transcription	Right Ventricle	heart
24	chr15:39789000-39794400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr15:39789000-39800800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:39789000-39803200	Weak transcription	Left Ventricle	heart
27	chr15:39789200-39790800	Weak transcription	Fetal Intestine Large	intestine
28	chr15:39789200-39791200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr15:39789400-39790600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:39789600-39790600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr15:39789600-39790600	Weak transcription	Fetal Kidney	kidney
32	chr15:39789600-39790800	Enhancers	Primary T cells from cord blood	blood
33	chr15:39789600-39790800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr15:39789600-39791000	Enhancers	HMEC	breast
35	chr15:39789600-39791200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr15:39789600-39791400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:39789800-39790600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr15:39789800-39791000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr15:39789800-39791600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:39789800-39793400	Weak transcription	Esophagus	oesophagus
41	chr15:39790000-39790600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr15:39790000-39790800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr15:39790000-39791400	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr15:39790000-39791600	Enhancers	Fetal Lung	lung
45	chr15:39790000-39792200	Enhancers	NHLF	lung
46	chr15:39790200-39794400	Weak transcription	K562	blood
47	chr15:39790400-39790800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr15:39790400-39790800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr15:39790400-39793200	Weak transcription	NHEK	skin

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