Variant report

Variant	rs2691113
Chromosome Location	chr2:37125646-37125647
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1015599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1019311	1.00[EUR][1000 genomes]
rs11124550	1.00[EUR][1000 genomes]
rs11892892	1.00[EUR][1000 genomes]
rs11896317	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2110943	1.00[EUR][1000 genomes]
rs2160378	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2247610	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2254704	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs2540921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540927	1.00[EUR][1000 genomes]
rs2540928	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540932	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540935	1.00[EUR][1000 genomes]
rs2540937	0.83[AMR][1000 genomes]
rs2540938	1.00[EUR][1000 genomes]
rs2541003	1.00[EUR][1000 genomes]
rs2541005	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691103	1.00[EUR][1000 genomes]
rs2691108	1.00[EUR][1000 genomes]
rs2691117	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691121	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2706810	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2706812	1.00[EUR][1000 genomes]
rs2706816	1.00[EUR][1000 genomes]
rs2717498	1.00[EUR][1000 genomes]
rs2717499	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717502	1.00[EUR][1000 genomes]
rs2717504	1.00[EUR][1000 genomes]
rs2717506	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717514	1.00[EUR][1000 genomes]
rs2717515	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717517	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2949393	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57644053	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59709996	1.00[AMR][1000 genomes]
rs61085492	1.00[EUR][1000 genomes]
rs61382980	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61561618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6708710	1.00[EUR][1000 genomes]
rs6734109	0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6738016	1.00[EUR][1000 genomes]
rs6750356	1.00[EUR][1000 genomes]
rs6758058	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs723674	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73924930	1.00[EUR][1000 genomes]
rs73924969	1.00[EUR][1000 genomes]
rs73924971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7593630	1.00[EUR][1000 genomes]
rs7593646	1.00[AMR][1000 genomes]
rs964853	0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv456363	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv581470	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37067600-37146200	Weak transcription	Psoas Muscle	Psoas
2	chr2:37075600-37139200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:37077200-37144400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:37077400-37136600	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:37087400-37146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:37094400-37154200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:37096400-37143800	Weak transcription	Fetal Kidney	kidney
8	chr2:37096800-37154400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:37099200-37140200	Weak transcription	Colonic Mucosa	Colon
10	chr2:37103800-37146200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:37105000-37152600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:37105000-37164600	Weak transcription	Lung	lung
13	chr2:37105200-37136200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:37105200-37139200	Weak transcription	Aorta	Aorta
15	chr2:37105200-37141200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:37105200-37144000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:37105200-37154400	Weak transcription	Esophagus	oesophagus
18	chr2:37105200-37157800	Weak transcription	Pancreas	Pancrea
19	chr2:37105200-37164600	Weak transcription	Spleen	Spleen
20	chr2:37105800-37146400	Weak transcription	Right Ventricle	heart
21	chr2:37110000-37135800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:37110800-37142800	Weak transcription	Gastric	stomach
23	chr2:37111200-37140600	Weak transcription	Fetal Brain Female	brain
24	chr2:37111600-37139200	Weak transcription	Ovary	ovary
25	chr2:37111800-37138200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:37112000-37138400	Weak transcription	Brain Germinal Matrix	brain
27	chr2:37112400-37145800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:37113600-37130200	Weak transcription	Fetal Heart	heart
29	chr2:37114000-37145800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:37116200-37131400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:37117400-37128800	Weak transcription	Brain Angular Gyrus	brain
32	chr2:37117400-37139400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr2:37117400-37144400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:37117600-37128200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:37117600-37128600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:37117600-37131000	Weak transcription	NH-A	brain
37	chr2:37117600-37139800	Weak transcription	HSMM	muscle
38	chr2:37117600-37153600	Weak transcription	Hela-S3	cervix
39	chr2:37118000-37139200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:37118000-37139600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:37118000-37139800	Weak transcription	HUVEC	blood vessel
42	chr2:37118000-37140000	Weak transcription	NHEK	skin
43	chr2:37118000-37140200	Weak transcription	HMEC	breast
44	chr2:37118200-37126600	Weak transcription	NHDF-Ad	bronchial
45	chr2:37118200-37139200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:37118200-37139800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:37118800-37131600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:37119600-37139000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr2:37119600-37139200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr2:37119600-37139200	Weak transcription	Osteobl	bone

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