Variant report

Variant	rs56302716
Chromosome Location	chr2:72503643-72503644
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56153402	0.93[EUR][1000 genomes]
rs72841783	0.86[EUR][1000 genomes]
rs72841784	0.86[EUR][1000 genomes]
rs7574693	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72489200-72508200	Weak transcription	Aorta	Aorta
2	chr2:72497400-72505400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:72499400-72507800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:72499400-72507800	Weak transcription	Psoas Muscle	Psoas
5	chr2:72499600-72510400	Weak transcription	Right Ventricle	heart
6	chr2:72499800-72505200	Weak transcription	NHEK	skin
7	chr2:72501000-72505800	Weak transcription	Pancreas	Pancrea
8	chr2:72502200-72504200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr2:72502200-72505400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:72502400-72504200	Enhancers	A549	lung
11	chr2:72502600-72503800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:72502800-72505200	Weak transcription	Hela-S3	cervix
13	chr2:72502800-72505800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:72502800-72507800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:72502800-72507800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:72503000-72504200	Weak transcription	Fetal Intestine Small	intestine
17	chr2:72503000-72504800	Enhancers	Left Ventricle	heart
18	chr2:72503000-72505600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:72503000-72506200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:72503200-72504200	Weak transcription	Brain Germinal Matrix	brain
21	chr2:72503200-72505600	Enhancers	Osteobl	bone
22	chr2:72503400-72503800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:72503400-72503800	Enhancers	NH-A	brain
24	chr2:72503400-72504400	Weak transcription	Fetal Intestine Large	intestine
25	chr2:72503400-72505200	Weak transcription	Fetal Heart	heart
26	chr2:72503400-72505400	Weak transcription	Small Intestine	intestine
27	chr2:72503600-72504000	Weak transcription	Ovary	ovary
28	chr2:72503600-72504400	Weak transcription	Brain Substantia Nigra	brain

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