Variant report

Variant	rs7562325
Chromosome Location	chr2:182399097-182399098
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10203974	0.91[LWK][hapmap];0.84[YRI][hapmap]
rs10204136	0.91[LWK][hapmap];0.84[YRI][hapmap]
rs1026403	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10490692	0.84[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.98[MKK][hapmap];0.91[TSI][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1143674	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11886182	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11890431	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12478032	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12690516	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12997453	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13003064	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13034078	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1349197	0.91[LWK][hapmap]
rs1375491	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1551031	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17226490	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2887191	0.84[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3770108	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4667309	0.96[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4667316	0.84[LWK][hapmap]
rs6707704	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6714061	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6721763	0.84[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6747500	0.82[AFR][1000 genomes]
rs6748657	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7602504	0.84[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.98[MKK][hapmap];0.91[TSI][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1014910	chr2:182375267-182544114	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv536065	chr2:182375267-182544114	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182324400-182410400	Weak transcription	NHLF	lung
2	chr2:182335000-182405800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr2:182338200-182399400	Weak transcription	Colonic Mucosa	Colon
4	chr2:182338200-182406800	Strong transcription	Fetal Thymus	thymus
5	chr2:182338200-182406800	Weak transcription	Spleen	Spleen
6	chr2:182338600-182405600	Strong transcription	Primary B cells from peripheral blood	blood
7	chr2:182339400-182405600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:182347200-182399800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:182349600-182405800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:182353800-182404200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:182356000-182406800	Strong transcription	Primary B cells from cord blood	blood
12	chr2:182358200-182405800	Strong transcription	Primary hematopoietic stem cells	blood
13	chr2:182364000-182399200	Weak transcription	HSMM	muscle
14	chr2:182366400-182399600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:182382600-182405600	Strong transcription	Dnd41	blood
16	chr2:182382800-182406200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:182383000-182404600	Weak transcription	Esophagus	oesophagus
18	chr2:182383000-182405800	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr2:182383000-182406000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:182383400-182404600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:182383600-182405600	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr2:182383600-182405600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:182384200-182406000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:182384200-182406400	Strong transcription	Primary T cells from cord blood	blood
25	chr2:182386000-182404600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:182386200-182402800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:182387000-182403400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:182387800-182400600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:182389200-182410200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:182389200-182410200	Weak transcription	HMEC	breast
31	chr2:182390000-182404800	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr2:182391000-182400800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:182391000-182404800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:182391400-182399200	Weak transcription	NH-A	brain
35	chr2:182392600-182410200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:182394000-182404200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr2:182395600-182399200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr2:182395600-182404800	Weak transcription	Small Intestine	intestine
39	chr2:182396200-182410400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:182396600-182401000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
41	chr2:182397000-182404800	Weak transcription	Fetal Intestine Large	intestine
42	chr2:182397600-182404600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:182397800-182399400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:182397800-182406200	Strong transcription	GM12878-XiMat	blood
45	chr2:182398000-182400400	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr2:182398000-182401000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:182398000-182401400	Strong transcription	NHDF-Ad	bronchial
48	chr2:182398000-182403600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:182398000-182403800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:182398400-182403200	Strong transcription	HSMMtube	muscle

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