Variant report

Variant	rs4952619
Chromosome Location	chr2:40634717-40634718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2373860	1.00[CHB][hapmap]
rs4411757	0.82[AMR][1000 genomes]
rs4557029	0.82[AMR][1000 genomes]
rs4952414	0.81[AMR][1000 genomes]
rs6544338	0.83[AMR][1000 genomes]
rs6719986	0.82[AMR][1000 genomes]
rs6726520	0.85[AMR][1000 genomes];0.84[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	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873916	chr2:40607504-40649084	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1007027	chr2:40627475-40649916	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40622200-40635600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:40623000-40634800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:40623600-40635000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:40623600-40655000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr2:40628400-40636800	Weak transcription	Right Ventricle	heart
6	chr2:40631400-40635400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:40631400-40636400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:40631400-40636600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:40631600-40634800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:40631600-40635400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:40631800-40639000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:40632600-40636800	Weak transcription	Fetal Brain Male	brain
13	chr2:40632800-40635600	Weak transcription	HMEC	breast
14	chr2:40633000-40635400	Weak transcription	Osteobl	bone
15	chr2:40633000-40635600	Weak transcription	NHDF-Ad	bronchial
16	chr2:40633000-40636800	Weak transcription	Brain Anterior Caudate	brain
17	chr2:40633000-40639200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:40633200-40635000	Weak transcription	HSMMtube	muscle
19	chr2:40633200-40635800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:40633200-40639400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:40633400-40635800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:40633600-40634800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:40633600-40635200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:40633600-40635200	Enhancers	Right Atrium	heart
25	chr2:40633600-40637200	Enhancers	Dnd41	blood
26	chr2:40633800-40635200	Genic enhancers	Fetal Heart	heart
27	chr2:40634000-40634800	Enhancers	Left Ventricle	heart
28	chr2:40634000-40635200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:40634000-40635200	Weak transcription	HSMM	muscle
30	chr2:40634000-40637400	Enhancers	Colon Smooth Muscle	Colon
31	chr2:40634000-40639200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:40634200-40634800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:40634600-40637000	Enhancers	Adipose Nuclei	Adipose

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