Variant report

Variant	rs2691121
Chromosome Location	chr2:37086420-37086421
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37080118..37082736-chr2:37085866..37087782,3	K562	blood:
2	chr2:37080118..37082736-chr2:37085866..37087782,2	K562	blood:

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

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

rs_ID	r²[population]
rs1015599	0.82[AFR][1000 genomes];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	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2247610	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2254704	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2540921	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540927	1.00[EUR][1000 genomes]
rs2540928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540935	1.00[EUR][1000 genomes]
rs2540937	0.95[AFR][1000 genomes];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]
rs2691113	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691117	0.89[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717502	1.00[EUR][1000 genomes]
rs2717504	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2717506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717513	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717514	1.00[EUR][1000 genomes]
rs2717515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717517	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717521	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2949393	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57644053	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59709996	1.00[AMR][1000 genomes]
rs61085492	1.00[EUR][1000 genomes]
rs61382980	0.90[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	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	0.88[AFR][1000 genomes];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	0.97[AFR][1000 genomes];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	nsv1011014	chr2:37027819-37095895	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv999465	chr2:37029347-37095895	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37062800-37095600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:37063000-37093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:37065800-37104200	Weak transcription	Right Ventricle	heart
4	chr2:37066800-37092800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:37067400-37103200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:37067600-37103000	Weak transcription	Small Intestine	intestine
7	chr2:37067600-37146200	Weak transcription	Psoas Muscle	Psoas
8	chr2:37068400-37095600	Weak transcription	Fetal Kidney	kidney
9	chr2:37071600-37087200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:37071800-37087200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:37073800-37088200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:37073800-37098400	Weak transcription	Colonic Mucosa	Colon
13	chr2:37074000-37087200	Strong transcription	Primary B cells from peripheral blood	blood
14	chr2:37074000-37088600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:37074000-37089000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:37075000-37086600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr2:37075400-37088200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:37075600-37091200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:37075600-37101600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:37075600-37139200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:37075800-37106600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:37076800-37111600	Weak transcription	Brain Germinal Matrix	brain
23	chr2:37077000-37093200	Weak transcription	Lung	lung
24	chr2:37077000-37102400	Weak transcription	Brain Angular Gyrus	brain
25	chr2:37077000-37102400	Weak transcription	Gastric	stomach
26	chr2:37077000-37116200	Weak transcription	Hela-S3	cervix
27	chr2:37077000-37116200	Weak transcription	NHLF	lung
28	chr2:37077200-37093800	Weak transcription	K562	blood
29	chr2:37077200-37094000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:37077200-37094200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:37077200-37102400	Weak transcription	Aorta	Aorta
32	chr2:37077200-37102400	Weak transcription	Pancreas	Pancrea
33	chr2:37077200-37144400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:37077400-37094000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:37077400-37136600	Weak transcription	Colon Smooth Muscle	Colon
36	chr2:37077800-37093600	Weak transcription	NH-A	brain
37	chr2:37078000-37094000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:37078000-37098600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr2:37078200-37118400	Weak transcription	Fetal Brain Male	brain
40	chr2:37078400-37093600	Weak transcription	Osteobl	bone
41	chr2:37078600-37092800	Weak transcription	Esophagus	oesophagus
42	chr2:37079000-37086800	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr2:37079200-37111000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:37079800-37088200	Weak transcription	HUVEC	blood vessel
45	chr2:37080200-37088400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:37080600-37105800	Strong transcription	Primary B cells from cord blood	blood
47	chr2:37081000-37088200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:37081000-37089200	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr2:37081400-37087400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:37081400-37088000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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