Variant report

Variant	rs72798626
Chromosome Location	chr2:40594238-40594239
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72798615	1.00[AFR][1000 genomes]
rs72798634	1.00[AFR][1000 genomes]
rs72798644	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv873915	chr2:40573350-40615520	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40591000-40598400	Weak transcription	Fetal Stomach	stomach
2	chr2:40591600-40600800	Weak transcription	Psoas Muscle	Psoas
3	chr2:40592200-40594600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:40592200-40594600	Weak transcription	HMEC	breast
5	chr2:40592200-40598000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:40592200-40598400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:40592200-40598800	Weak transcription	Left Ventricle	heart
8	chr2:40592400-40594600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:40592400-40594600	Weak transcription	HSMMtube	muscle
10	chr2:40592400-40594800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:40592400-40596400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:40592400-40597200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:40592400-40597400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:40592400-40597400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:40592400-40598000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:40592400-40598000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:40592400-40598400	Weak transcription	Brain Anterior Caudate	brain
18	chr2:40592400-40598400	Weak transcription	Fetal Kidney	kidney
19	chr2:40592400-40598600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:40592400-40598800	Weak transcription	Ovary	ovary
21	chr2:40592400-40605200	Weak transcription	Right Atrium	heart
22	chr2:40592600-40594400	Weak transcription	HSMM	muscle
23	chr2:40592800-40596400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:40592800-40596400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr2:40592800-40597200	Weak transcription	NHDF-Ad	bronchial
26	chr2:40592800-40606600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr2:40593000-40594600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:40593000-40594600	Weak transcription	Right Ventricle	heart
29	chr2:40593400-40595000	Enhancers	Fetal Brain Male	brain
30	chr2:40593400-40607000	Weak transcription	Dnd41	blood
31	chr2:40594000-40594400	Enhancers	Fetal Heart	heart
32	chr2:40594200-40594400	Enhancers	Brain Angular Gyrus	brain
33	chr2:40594200-40595000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:40594200-40595200	Enhancers	Hela-S3	cervix
35	chr2:40594200-40595400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr2:40594200-40595400	Enhancers	NH-A	brain
37	chr2:40594200-40595400	Enhancers	Osteobl	bone
38	chr2:40594200-40596000	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:40594200-40605200	Weak transcription	Fetal Brain Female	brain

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