Variant report

Variant	rs12614187
Chromosome Location	chr2:182402491-182402492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1038034	0.93[CEU][hapmap];0.91[CHD][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10490685	0.83[ASN][1000 genomes]
rs10490691	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.87[JPT][hapmap];1.00[MKK][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11553356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12619341	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12623687	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12623737	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1449259	0.93[CEU][hapmap];0.83[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16867431	0.92[CEU][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16867433	0.93[CEU][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16867437	0.93[CEU][hapmap];0.83[CHB][hapmap];0.94[CHD][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16867438	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16867442	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16867443	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16867444	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16867445	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1816990	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2290517	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2305581	0.93[CEU][hapmap];0.83[CHB][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2305582	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3770106	0.93[CEU][hapmap];0.83[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3770109	0.93[CEU][hapmap];0.83[CHB][hapmap];0.94[CHD][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3770111	0.93[CEU][hapmap];0.82[CHB][hapmap];0.94[CHD][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3770116	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4479393	0.93[CEU][hapmap];0.83[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4666787	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4667310	0.93[CEU][hapmap];0.94[CHD][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55741565	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs55743845	0.83[ASN][1000 genomes]
rs55890022	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56005177	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56073441	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56081507	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56104379	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56263562	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58018201	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58383411	0.82[ASN][1000 genomes]
rs58662009	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58716781	0.82[ASN][1000 genomes]
rs6705247	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67427532	0.84[EUR][1000 genomes]
rs6756022	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs718449	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72883635	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72883653	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72883655	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72883670	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72883678	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72883679	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72883681	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72900325	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72900326	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72900343	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7601843	0.93[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.88[MKK][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs971741	0.80[AMR][1000 genomes];0.84[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:49 , 50 per page) page: 1

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	chr2:182338200-182406800	Strong transcription	Fetal Thymus	thymus
4	chr2:182338200-182406800	Weak transcription	Spleen	Spleen
5	chr2:182338600-182405600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr2:182339400-182405600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:182349600-182405800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:182353800-182404200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:182356000-182406800	Strong transcription	Primary B cells from cord blood	blood
10	chr2:182358200-182405800	Strong transcription	Primary hematopoietic stem cells	blood
11	chr2:182382600-182405600	Strong transcription	Dnd41	blood
12	chr2:182382800-182406200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:182383000-182404600	Weak transcription	Esophagus	oesophagus
14	chr2:182383000-182405800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr2:182383000-182406000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:182383400-182404600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:182383600-182405600	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:182383600-182405600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:182384200-182406000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:182384200-182406400	Strong transcription	Primary T cells from cord blood	blood
21	chr2:182386000-182404600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:182386200-182402800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:182387000-182403400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:182389200-182410200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:182389200-182410200	Weak transcription	HMEC	breast
26	chr2:182390000-182404800	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:182391000-182404800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:182392600-182410200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:182394000-182404200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr2:182395600-182404800	Weak transcription	Small Intestine	intestine
31	chr2:182396200-182410400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:182397000-182404800	Weak transcription	Fetal Intestine Large	intestine
33	chr2:182397600-182404600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:182397800-182406200	Strong transcription	GM12878-XiMat	blood
35	chr2:182398000-182403600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:182398000-182403800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:182398400-182403200	Strong transcription	HSMMtube	muscle
38	chr2:182398400-182404200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:182398800-182405600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:182400400-182404200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr2:182400600-182411000	Weak transcription	NH-A	brain
42	chr2:182401000-182402600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:182401000-182404200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr2:182401400-182417600	Weak transcription	NHDF-Ad	bronchial
45	chr2:182401600-182402600	Weak transcription	HSMM	muscle
46	chr2:182401600-182403000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:182401600-182403400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:182402000-182404800	Weak transcription	Thymus	Thymus
49	chr2:182402000-182405600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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