Variant report

Variant	rs62193429
Chromosome Location	chr2:231353513-231353514
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11687978	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1615764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1649895	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1649923	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1678152	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1678157	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1678158	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1678175	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1678184	0.85[ASN][1000 genomes]
rs1678186	0.81[ASN][1000 genomes]
rs1678188	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1678196	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1678197	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1678208	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2559092	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4972956	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4973329	0.85[ASN][1000 genomes]
rs55736462	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62193432	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6711920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6712053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs699662	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs699663	0.83[ASN][1000 genomes]
rs836230	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs836231	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs836233	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs836234	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs836235	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs856838	0.85[ASN][1000 genomes]
rs860704	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs866270	0.85[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	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231288800-231356000	Weak transcription	Stomach Mucosa	stomach
2	chr2:231334200-231356000	Weak transcription	Fetal Intestine Small	intestine
3	chr2:231334800-231358400	Weak transcription	Fetal Stomach	stomach
4	chr2:231335000-231359000	Weak transcription	NHLF	lung
5	chr2:231336000-231356000	Weak transcription	NHDF-Ad	bronchial
6	chr2:231336400-231363400	Weak transcription	Fetal Lung	lung
7	chr2:231336600-231356200	Weak transcription	Placenta	Placenta
8	chr2:231336600-231363400	Weak transcription	Right Ventricle	heart
9	chr2:231336800-231376000	Weak transcription	Colonic Mucosa	Colon
10	chr2:231337800-231359200	Weak transcription	HMEC	breast
11	chr2:231338400-231355200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:231338400-231376200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:231339200-231354200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr2:231340000-231358800	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:231340600-231353800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr2:231340600-231361000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:231340800-231355600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:231341000-231361000	Strong transcription	Primary B cells from peripheral blood	blood
19	chr2:231344600-231355800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:231344600-231356600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr2:231345000-231356000	Weak transcription	Esophagus	oesophagus
22	chr2:231345400-231356000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:231345400-231359200	Weak transcription	HSMMtube	muscle
24	chr2:231345600-231355200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:231345600-231355200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:231345600-231356000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:231345600-231356200	Weak transcription	Pancreas	Pancrea
28	chr2:231345600-231357600	Weak transcription	NH-A	brain
29	chr2:231345600-231358200	Weak transcription	NHEK	skin
30	chr2:231345600-231358400	Weak transcription	Small Intestine	intestine
31	chr2:231345800-231355600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:231345800-231355800	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:231346000-231356000	Weak transcription	Gastric	stomach
34	chr2:231346200-231356000	Weak transcription	Spleen	Spleen
35	chr2:231346200-231356200	Weak transcription	Fetal Intestine Large	intestine
36	chr2:231346600-231355400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:231346600-231356200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:231346600-231358200	Weak transcription	Osteobl	bone
39	chr2:231346600-231359200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:231346600-231370000	Weak transcription	K562	blood
41	chr2:231347200-231363200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:231348400-231355800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:231348400-231361400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr2:231348800-231359600	Weak transcription	HSMM	muscle
45	chr2:231349000-231355400	Weak transcription	Dnd41	blood
46	chr2:231349000-231355600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:231349000-231355800	Weak transcription	Aorta	Aorta
48	chr2:231349000-231356200	Weak transcription	Fetal Thymus	thymus
49	chr2:231349400-231355600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr2:231349400-231356200	Weak transcription	Left Ventricle	heart

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