Variant report

Variant	rs35217514
Chromosome Location	chr2:231355776-231355777
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13020940	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021299	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13035313	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34617471	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35393970	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35658621	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36126131	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36144939	0.89[ASN][1000 genomes]
rs4402748	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6436943	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740283	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744270	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751402	0.89[ASN][1000 genomes]
rs6759377	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:85 , 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	chr2:231341000-231361000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr2:231344600-231355800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:231344600-231356600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr2:231345000-231356000	Weak transcription	Esophagus	oesophagus
18	chr2:231345400-231356000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:231345400-231359200	Weak transcription	HSMMtube	muscle
20	chr2:231345600-231356000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:231345600-231356200	Weak transcription	Pancreas	Pancrea
22	chr2:231345600-231357600	Weak transcription	NH-A	brain
23	chr2:231345600-231358200	Weak transcription	NHEK	skin
24	chr2:231345600-231358400	Weak transcription	Small Intestine	intestine
25	chr2:231345800-231355800	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:231346000-231356000	Weak transcription	Gastric	stomach
27	chr2:231346200-231356000	Weak transcription	Spleen	Spleen
28	chr2:231346200-231356200	Weak transcription	Fetal Intestine Large	intestine
29	chr2:231346600-231356200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:231346600-231358200	Weak transcription	Osteobl	bone
31	chr2:231346600-231359200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:231346600-231370000	Weak transcription	K562	blood
33	chr2:231347200-231363200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:231348400-231355800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:231348400-231361400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:231348800-231359600	Weak transcription	HSMM	muscle
37	chr2:231349000-231355800	Weak transcription	Aorta	Aorta
38	chr2:231349000-231356200	Weak transcription	Fetal Thymus	thymus
39	chr2:231349400-231356200	Weak transcription	Left Ventricle	heart
40	chr2:231349400-231356200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:231350600-231357800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:231350600-231360000	Strong transcription	Primary T cells from cord blood	blood
43	chr2:231350600-231361000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:231351000-231355800	Weak transcription	HUVEC	blood vessel
45	chr2:231351200-231355800	Weak transcription	Lung	lung
46	chr2:231351200-231358400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:231351400-231356000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr2:231351600-231355800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:231352200-231355800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:231352600-231376800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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