Variant report

Variant	rs57419817
Chromosome Location	chr2:56090539-56090540
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	chr2:56089463..56091242-chr2:56092326..56094493,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11680015	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11695502	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56666949	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7581441	0.80[ASN][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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56088200-56090800	Enhancers	HMEC	breast
2	chr2:56088200-56090800	Enhancers	NHDF-Ad	bronchial
3	chr2:56088600-56090800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:56088600-56090800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:56088600-56090800	Enhancers	NHEK	skin
6	chr2:56088600-56091000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:56088600-56092400	Enhancers	HUVEC	blood vessel
8	chr2:56089000-56090600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:56089200-56095000	Weak transcription	Aorta	Aorta
10	chr2:56089200-56097000	Weak transcription	Lung	lung
11	chr2:56089200-56112200	Weak transcription	Pancreas	Pancrea
12	chr2:56089400-56090600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:56089400-56091000	Enhancers	Osteobl	bone
14	chr2:56089400-56091200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:56089400-56093800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:56089400-56097000	Weak transcription	Right Atrium	heart
17	chr2:56089600-56090600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:56089600-56090800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:56089600-56091000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:56089600-56091200	Enhancers	Hela-S3	cervix
21	chr2:56089600-56091200	Enhancers	NH-A	brain
22	chr2:56089600-56091800	Weak transcription	Ovary	ovary
23	chr2:56089600-56092600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:56089600-56097000	Weak transcription	HSMMtube	muscle
25	chr2:56089800-56091800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:56089800-56092600	Weak transcription	HSMM	muscle
27	chr2:56089800-56098000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr2:56090000-56107600	Weak transcription	Fetal Stomach	stomach
29	chr2:56090200-56090800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:56090200-56090800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:56090200-56090800	Enhancers	Placenta	Placenta
32	chr2:56090200-56090800	Enhancers	A549	lung
33	chr2:56090200-56090800	Enhancers	NHLF	lung
34	chr2:56090200-56107400	Weak transcription	Fetal Lung	lung
35	chr2:56090400-56090800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:56090400-56090800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:56090400-56094800	Weak transcription	Adipose Nuclei	Adipose

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