Variant report

Variant	rs13020940
Chromosome Location	chr2:231356162-231356163
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs13009809	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13021299	0.99[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]
rs1559989	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16827319	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34617471	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35217514	0.98[AFR][1000 genomes];1.00[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705605	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6740283	1.00[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	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6759377	1.00[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	chr2:231334800-231358400	Weak transcription	Fetal Stomach	stomach
2	chr2:231335000-231359000	Weak transcription	NHLF	lung
3	chr2:231336400-231363400	Weak transcription	Fetal Lung	lung
4	chr2:231336600-231356200	Weak transcription	Placenta	Placenta
5	chr2:231336600-231363400	Weak transcription	Right Ventricle	heart
6	chr2:231336800-231376000	Weak transcription	Colonic Mucosa	Colon
7	chr2:231337800-231359200	Weak transcription	HMEC	breast
8	chr2:231338400-231376200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:231340000-231358800	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:231340600-231361000	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:231341000-231361000	Strong transcription	Primary B cells from peripheral blood	blood
12	chr2:231344600-231356600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:231345400-231359200	Weak transcription	HSMMtube	muscle
14	chr2:231345600-231356200	Weak transcription	Pancreas	Pancrea
15	chr2:231345600-231357600	Weak transcription	NH-A	brain
16	chr2:231345600-231358200	Weak transcription	NHEK	skin
17	chr2:231345600-231358400	Weak transcription	Small Intestine	intestine
18	chr2:231346200-231356200	Weak transcription	Fetal Intestine Large	intestine
19	chr2:231346600-231356200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr2:231346600-231358200	Weak transcription	Osteobl	bone
21	chr2:231346600-231359200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:231346600-231370000	Weak transcription	K562	blood
23	chr2:231347200-231363200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:231348400-231361400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:231348800-231359600	Weak transcription	HSMM	muscle
26	chr2:231349000-231356200	Weak transcription	Fetal Thymus	thymus
27	chr2:231349400-231356200	Weak transcription	Left Ventricle	heart
28	chr2:231349400-231356200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:231350600-231357800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:231350600-231360000	Strong transcription	Primary T cells from cord blood	blood
31	chr2:231350600-231361000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:231351200-231358400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:231352600-231376800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:231353200-231360000	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:231353400-231357600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:231353400-231358600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:231353800-231356200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:231354600-231360800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr2:231354600-231361000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:231354800-231361200	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr2:231355000-231357400	Strong transcription	Ovary	ovary
42	chr2:231355000-231360400	Strong transcription	Primary B cells from cord blood	blood
43	chr2:231355200-231356200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
44	chr2:231355200-231356200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:231355200-231356200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:231355200-231357000	ZNF genes & repeats	GM12878-XiMat	blood
47	chr2:231355200-231357200	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:231355200-231357400	Strong transcription	Primary hematopoietic stem cells	blood
49	chr2:231355200-231357400	Strong transcription	Thymus	Thymus
50	chr2:231355200-231360200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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