Variant report

Variant	rs2276562
Chromosome Location	chr2:187558960-187558961
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10165992	0.92[ASN][1000 genomes]
rs1072901	0.99[ASN][1000 genomes]
rs12471718	0.96[ASN][1000 genomes]
rs12475476	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12618322	0.81[ASN][1000 genomes]
rs13020260	0.91[ASN][1000 genomes]
rs1448427	0.93[EUR][1000 genomes]
rs17406346	0.97[ASN][1000 genomes]
rs2012128	0.87[ASN][1000 genomes]
rs2012401	0.88[ASN][1000 genomes]
rs2121976	0.98[ASN][1000 genomes]
rs2290083	0.96[ASN][1000 genomes]
rs2595383	0.85[ASN][1000 genomes]
rs2595386	0.86[ASN][1000 genomes]
rs2595395	0.95[ASN][1000 genomes]
rs2682863	0.94[ASN][1000 genomes]
rs2682868	0.96[ASN][1000 genomes]
rs2682873	0.96[ASN][1000 genomes]
rs3114941	0.87[ASN][1000 genomes]
rs34840521	0.93[EUR][1000 genomes]
rs35348196	0.93[EUR][1000 genomes]
rs35540241	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3768785	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41265951	0.95[ASN][1000 genomes]
rs4667107	0.92[EUR][1000 genomes]
rs4667112	0.97[ASN][1000 genomes]
rs4667113	0.98[ASN][1000 genomes]
rs55781198	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55961288	0.82[ASN][1000 genomes]
rs56222785	0.91[EUR][1000 genomes]
rs62173041	0.97[ASN][1000 genomes]
rs62173044	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62196185	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6705757	0.82[ASN][1000 genomes]
rs718259	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7585442	0.88[EUR][1000 genomes]
rs7585471	0.88[EUR][1000 genomes]
rs9967663	0.94[ASN][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	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats 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 miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187558000-187559800	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr2:187558000-187560200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr2:187558000-187560400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:187558000-187560400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:187558000-187560400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr2:187558000-187560400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:187558000-187560600	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr2:187558000-187563000	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr2:187558200-187559000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr2:187558200-187559000	Active TSS	Fetal Muscle Trunk	muscle
11	chr2:187558200-187559000	Active TSS	HMEC	breast
12	chr2:187558200-187559400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:187558200-187559400	Active TSS	Muscle Satellite Cultured Cells	--
14	chr2:187558200-187559600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr2:187558200-187559800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr2:187558200-187559800	Active TSS	Primary T cells from cord blood	blood
17	chr2:187558200-187559800	Active TSS	Fetal Lung	lung
18	chr2:187558200-187560000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:187558200-187560000	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr2:187558200-187560000	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr2:187558200-187560000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:187558200-187560000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:187558200-187560000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:187558200-187560200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:187558200-187560200	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr2:187558200-187560200	Active TSS	Brain Cingulate Gyrus	brain
27	chr2:187558200-187560200	Active TSS	Colon Smooth Muscle	Colon
28	chr2:187558200-187560200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
29	chr2:187558200-187560200	Active TSS	Fetal Stomach	stomach
30	chr2:187558200-187560200	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr2:187558200-187560200	Active TSS	Stomach Smooth Muscle	stomach
32	chr2:187558200-187560400	Active TSS	H1 Cell Line	embryonic stem cell
33	chr2:187558200-187560400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:187558200-187560400	Active TSS	Rectal Smooth Muscle	rectum
35	chr2:187558200-187560600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:187558200-187560600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:187558200-187560600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:187558200-187560600	Active TSS	Brain Substantia Nigra	brain
39	chr2:187558200-187560600	Active TSS	Fetal Kidney	kidney
40	chr2:187558200-187560600	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr2:187558200-187560800	Active TSS	Brain Hippocampus Middle	brain
42	chr2:187558200-187561200	Active TSS	Brain Angular Gyrus	brain
43	chr2:187558200-187561200	Active TSS	Brain Anterior Caudate	brain
44	chr2:187558400-187559000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:187558400-187559000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:187558400-187559000	Active TSS	Pancreas	Pancrea
47	chr2:187558400-187559200	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr2:187558400-187559200	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr2:187558400-187559200	Active TSS	Aorta	Aorta
50	chr2:187558400-187559200	Active TSS	Esophagus	oesophagus

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