Variant report

Variant	rs12590682
Chromosome Location	chr14:81375747-81375748
allele	A/G
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:55)

rs_ID	r²[population]
rs10129919	0.80[CEU][hapmap];0.86[JPT][hapmap]
rs10132871	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs10498551	0.84[JPT][hapmap]
rs10498552	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs11159475	0.85[JPT][hapmap]
rs12147744	0.80[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes]
rs12586162	0.80[CEU][hapmap]
rs12586908	0.80[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes]
rs12587068	0.83[AMR][1000 genomes]
rs12587210	0.85[CEU][hapmap]
rs12587246	0.83[AMR][1000 genomes]
rs12587367	0.80[CEU][hapmap];0.84[JPT][hapmap]
rs12587844	0.80[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs12587883	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs12588075	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs12589266	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs12589927	1.00[CEU][hapmap]
rs12589935	0.85[JPT][hapmap]
rs12590477	0.86[CEU][hapmap];0.94[JPT][hapmap]
rs12590579	0.86[JPT][hapmap]
rs12590770	0.83[AMR][1000 genomes]
rs12880008	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs12882027	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs12884630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs12885049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs12885819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12892149	0.80[CEU][hapmap];0.86[JPT][hapmap]
rs12892368	0.88[CEU][hapmap];0.95[JPT][hapmap]
rs12892567	0.81[JPT][hapmap]
rs1458992	0.85[JPT][hapmap]
rs17111078	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs17111143	0.84[JPT][hapmap]
rs17111149	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap]
rs17111151	0.80[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap]
rs17111165	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs17111167	0.80[CEU][hapmap];0.86[JPT][hapmap]
rs2021815	0.80[CEU][hapmap]
rs2195101	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs2300517	0.81[JPT][hapmap]
rs2300520	0.81[JPT][hapmap]
rs2371414	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs2371417	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs2371461	0.86[JPT][hapmap]
rs2840052	0.89[CEU][hapmap];0.90[JPT][hapmap]
rs34144142	0.83[AMR][1000 genomes]
rs34296139	0.83[AMR][1000 genomes]
rs34611247	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs34868228	0.83[AMR][1000 genomes]
rs35728625	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs35765671	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs3742720	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs3861639	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs55634365	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60407794	0.87[AMR][1000 genomes]
rs7149702	0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81321600-81382200	Weak transcription	Left Ventricle	heart
2	chr14:81345200-81386200	Weak transcription	Aorta	Aorta
3	chr14:81351200-81380600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr14:81351400-81398400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr14:81351800-81380000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr14:81351800-81382000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:81355200-81384600	Weak transcription	Hela-S3	cervix
8	chr14:81356800-81381800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr14:81357800-81392600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr14:81358000-81380800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr14:81358000-81396600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr14:81358600-81381400	Weak transcription	Primary T cells from cord blood	blood
13	chr14:81358800-81379600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:81359200-81380600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:81359200-81389600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr14:81359400-81379800	Weak transcription	Adipose Nuclei	Adipose
17	chr14:81359400-81380000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:81359400-81380600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:81359400-81406000	Weak transcription	A549	lung
20	chr14:81359600-81381800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:81359800-81396200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:81359800-81407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:81360000-81383400	Strong transcription	Dnd41	blood
24	chr14:81360200-81393800	Weak transcription	HMEC	breast
25	chr14:81362000-81384600	Weak transcription	HUVEC	blood vessel
26	chr14:81362200-81392600	Weak transcription	NH-A	brain
27	chr14:81362200-81392800	Weak transcription	Fetal Muscle Leg	muscle
28	chr14:81363400-81381800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr14:81363800-81391200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr14:81364000-81381800	Weak transcription	Liver	Liver
31	chr14:81364400-81395800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr14:81364400-81395800	Weak transcription	GM12878-XiMat	blood
33	chr14:81364800-81379800	Weak transcription	Ovary	ovary
34	chr14:81365200-81393000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr14:81366200-81379800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:81366400-81382000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr14:81367000-81381400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr14:81367200-81379400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:81369400-81389200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr14:81369600-81397200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr14:81370000-81381800	Weak transcription	Primary B cells from cord blood	blood
42	chr14:81370400-81393600	Weak transcription	NHEK	skin
43	chr14:81370600-81381600	Weak transcription	Pancreas	Pancrea
44	chr14:81371400-81381200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:81371600-81392800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:81372000-81379600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:81372000-81392000	Weak transcription	Fetal Stomach	stomach
48	chr14:81372200-81381400	Weak transcription	Brain Germinal Matrix	brain
49	chr14:81372400-81381400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr14:81372800-81381800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links