Variant report

Variant	rs6743289
Chromosome Location	chr2:231355367-231355368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10084296	0.80[EUR][1000 genomes]
rs12623331	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12694871	0.82[EUR][1000 genomes]
rs4973326	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6732411	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750554	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570691	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs7585005	0.80[EUR][1000 genomes]
rs7601665	0.85[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs890669	0.82[EUR][1000 genomes]
rs890670	0.82[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	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	chr2:231338400-231376200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:231340000-231358800	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:231340600-231361000	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:231340800-231355600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:231341000-231361000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr2:231344600-231355800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:231344600-231356600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:231345000-231356000	Weak transcription	Esophagus	oesophagus
19	chr2:231345400-231356000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:231345400-231359200	Weak transcription	HSMMtube	muscle
21	chr2:231345600-231356000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:231345600-231356200	Weak transcription	Pancreas	Pancrea
23	chr2:231345600-231357600	Weak transcription	NH-A	brain
24	chr2:231345600-231358200	Weak transcription	NHEK	skin
25	chr2:231345600-231358400	Weak transcription	Small Intestine	intestine
26	chr2:231345800-231355600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:231345800-231355800	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:231346000-231356000	Weak transcription	Gastric	stomach
29	chr2:231346200-231356000	Weak transcription	Spleen	Spleen
30	chr2:231346200-231356200	Weak transcription	Fetal Intestine Large	intestine
31	chr2:231346600-231355400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:231346600-231356200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr2:231346600-231358200	Weak transcription	Osteobl	bone
34	chr2:231346600-231359200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:231346600-231370000	Weak transcription	K562	blood
36	chr2:231347200-231363200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:231348400-231355800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:231348400-231361400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:231348800-231359600	Weak transcription	HSMM	muscle
40	chr2:231349000-231355400	Weak transcription	Dnd41	blood
41	chr2:231349000-231355600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr2:231349000-231355800	Weak transcription	Aorta	Aorta
43	chr2:231349000-231356200	Weak transcription	Fetal Thymus	thymus
44	chr2:231349400-231355600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr2:231349400-231356200	Weak transcription	Left Ventricle	heart
46	chr2:231349400-231356200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr2:231350600-231357800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:231350600-231360000	Strong transcription	Primary T cells from cord blood	blood
49	chr2:231350600-231361000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:231351000-231355800	Weak transcription	HUVEC	blood vessel

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