Variant report

Variant	rs4673526
Chromosome Location	chr2:211306295-211306296
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10195342	0.96[EUR][1000 genomes]
rs1027901	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1044708	0.96[EUR][1000 genomes]
rs10804181	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10804182	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10804183	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11690895	0.89[ASN][1000 genomes]
rs11889228	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11894867	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11896108	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11900468	0.86[EUR][1000 genomes]
rs12469589	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12473150	0.85[EUR][1000 genomes]
rs12477237	0.84[EUR][1000 genomes]
rs1350463	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1379838	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1812875	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2021214	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2287424	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2287425	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2287429	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2287430	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2287431	0.84[ASN][1000 genomes]
rs2287432	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2287433	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2370949	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2370956	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2887899	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35314871	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs3755184	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3770689	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3770694	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3770695	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3770699	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3821136	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3845633	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3851937	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3856339	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3863852	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4102441	0.89[EUR][1000 genomes]
rs4467201	0.95[EUR][1000 genomes]
rs4609985	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4673528	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4673529	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6435568	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6435569	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6717228	0.90[EUR][1000 genomes]
rs6745925	0.89[EUR][1000 genomes]
rs6756422	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs725379	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72930503	0.84[ASN][1000 genomes]
rs7575005	0.90[AFR][1000 genomes]
rs7578688	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7595022	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012567	chr2:211087588-211315554	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv875767	chr2:211119233-211334647	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv3147	chr2:211281479-211326844	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211292400-211323000	Weak transcription	Fetal Brain Male	brain
2	chr2:211293200-211307400	Strong transcription	Primary B cells from peripheral blood	blood
3	chr2:211293200-211307800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:211293200-211311600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:211293800-211335400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:211294800-211306400	Strong transcription	Dnd41	blood
7	chr2:211294800-211322200	Weak transcription	K562	blood
8	chr2:211294800-211333200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:211295000-211306600	Strong transcription	Brain Cingulate Gyrus	brain
10	chr2:211295000-211307400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:211295000-211330400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:211295000-211336000	Weak transcription	Colonic Mucosa	Colon
13	chr2:211295000-211340600	Weak transcription	HUVEC	blood vessel
14	chr2:211295400-211309200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:211295600-211306600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:211295600-211307800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr2:211295600-211308000	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr2:211295800-211307200	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:211295800-211307400	Strong transcription	Fetal Thymus	thymus
20	chr2:211295800-211307600	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:211296000-211307600	Strong transcription	Primary B cells from cord blood	blood
22	chr2:211296000-211309000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:211296000-211340200	Weak transcription	Small Intestine	intestine
24	chr2:211296400-211309200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:211296400-211341000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr2:211296600-211306600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:211297200-211307000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:211297400-211309000	Strong transcription	Brain Angular Gyrus	brain
29	chr2:211297400-211321400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:211297800-211336200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:211298000-211306400	Strong transcription	Brain Anterior Caudate	brain
32	chr2:211299400-211307000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:211299400-211322600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:211299600-211322400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:211299800-211318600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr2:211299800-211330000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:211300200-211326000	Weak transcription	NHDF-Ad	bronchial
38	chr2:211300400-211329800	Weak transcription	A549	lung
39	chr2:211301200-211317000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr2:211301200-211319200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:211301200-211319200	Weak transcription	Fetal Stomach	stomach
42	chr2:211301200-211322400	Weak transcription	Aorta	Aorta
43	chr2:211301200-211322600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:211301200-211322600	Weak transcription	Pancreas	Pancrea
45	chr2:211301200-211322600	Weak transcription	Spleen	Spleen
46	chr2:211301200-211325400	Weak transcription	Esophagus	oesophagus
47	chr2:211301200-211330000	Weak transcription	Gastric	stomach
48	chr2:211301200-211340200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:211301200-211340600	Weak transcription	Fetal Intestine Small	intestine
50	chr2:211301200-211340800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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