Variant report

Variant	rs57688709
Chromosome Location	chr2:72440368-72440369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11887922	1.00[EUR][1000 genomes]
rs17007943	1.00[EUR][1000 genomes]
rs17007946	1.00[EUR][1000 genomes]
rs72910353	1.00[EUR][1000 genomes]
rs72910391	1.00[EUR][1000 genomes]
rs72914183	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72432800-72441600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:72432800-72456600	Weak transcription	Psoas Muscle	Psoas
3	chr2:72433000-72441600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:72433000-72460600	Weak transcription	Pancreas	Pancrea
5	chr2:72433200-72442200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:72433200-72450000	Weak transcription	Brain Angular Gyrus	brain
7	chr2:72433200-72450000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:72433200-72466000	Weak transcription	Right Ventricle	heart
9	chr2:72433200-72468600	Weak transcription	Right Atrium	heart
10	chr2:72433400-72450200	Weak transcription	Brain Anterior Caudate	brain
11	chr2:72433600-72442000	Weak transcription	Fetal Stomach	stomach
12	chr2:72437800-72440400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:72437800-72440600	Enhancers	Osteobl	bone
14	chr2:72438200-72442200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:72438200-72446400	Weak transcription	Fetal Heart	heart
16	chr2:72438400-72449800	Weak transcription	HMEC	breast
17	chr2:72438600-72440600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:72439000-72441000	Weak transcription	A549	lung
19	chr2:72439400-72441200	Weak transcription	Small Intestine	intestine
20	chr2:72439400-72441600	Weak transcription	NH-A	brain
21	chr2:72439600-72441800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:72439600-72441800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:72439800-72440400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr2:72440200-72440400	Enhancers	Colonic Mucosa	Colon
25	chr2:72440200-72440400	Enhancers	Esophagus	oesophagus
26	chr2:72440200-72441000	Enhancers	Left Ventricle	heart
27	chr2:72440200-72441800	Weak transcription	NHDF-Ad	bronchial

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