Variant report

Variant	rs12879971
Chromosome Location	chr14:65901604-65901605
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10138570	0.86[CEU][hapmap]
rs10483780	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11158592	0.89[CEU][hapmap]
rs11158593	0.89[CEU][hapmap]
rs11158596	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11158601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11158602	0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11620749	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621680	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11622014	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11624045	0.83[EUR][1000 genomes]
rs11627084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11628196	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11851576	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12589698	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12879202	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12879805	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12882269	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs12883815	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12886334	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12887134	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12889002	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12890123	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12890978	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12892058	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895074	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12896663	0.83[EUR][1000 genomes]
rs1815654	0.87[ASN][1000 genomes]
rs1953416	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1958561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2002692	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2149841	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2184603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2411355	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2411357	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2411816	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2411822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3783709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3825640	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4456409	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4581615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4899179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902400	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4902407	0.80[ASN][1000 genomes]
rs67071794	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7146742	0.86[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs7153297	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7154536	0.82[ASN][1000 genomes]
rs7155541	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs7161123	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs743085	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8005710	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8012278	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs867972	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs883081	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs883082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9796385	0.80[AFR][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	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65880800-65904800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr14:65881000-65902600	Weak transcription	Fetal Intestine Small	intestine
3	chr14:65881800-65902000	Weak transcription	Primary B cells from cord blood	blood
4	chr14:65881800-65902000	Weak transcription	Fetal Intestine Large	intestine
5	chr14:65886600-65905600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr14:65888400-65905400	Weak transcription	Ovary	ovary
7	chr14:65891600-65904000	Weak transcription	Lung	lung
8	chr14:65891800-65904400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr14:65892800-65929600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr14:65893000-65917600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:65893600-65902200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:65897000-65925600	Weak transcription	Aorta	Aorta
13	chr14:65898400-65935600	Weak transcription	Gastric	stomach
14	chr14:65899000-65902200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr14:65899000-65903600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr14:65899200-65913000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:65899400-65901800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:65899600-65901800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr14:65899600-65905200	Weak transcription	Psoas Muscle	Psoas
20	chr14:65899600-65909600	Weak transcription	Left Ventricle	heart
21	chr14:65899600-65929000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:65899800-65901800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:65899800-65901800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:65899800-65903600	Weak transcription	Stomach Mucosa	stomach
25	chr14:65899800-65905000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr14:65899800-65905200	Weak transcription	Small Intestine	intestine
27	chr14:65899800-65906000	Weak transcription	Placenta	Placenta
28	chr14:65899800-65917600	Weak transcription	Thymus	Thymus
29	chr14:65900000-65901800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr14:65900000-65903600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr14:65900000-65917400	Weak transcription	Fetal Thymus	thymus
32	chr14:65900200-65901800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:65900200-65902200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr14:65900200-65903600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr14:65900200-65912800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:65900400-65902200	Weak transcription	Brain Germinal Matrix	brain
37	chr14:65900400-65904000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr14:65900400-65912800	Weak transcription	Brain Anterior Caudate	brain
39	chr14:65900600-65901800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr14:65900600-65901800	Enhancers	Brain Hippocampus Middle	brain
41	chr14:65900600-65903400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr14:65900600-65903600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr14:65900800-65901800	Enhancers	NH-A	brain
44	chr14:65900800-65904000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr14:65901000-65902200	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr14:65901000-65902200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr14:65901000-65902600	Weak transcription	Fetal Stomach	stomach
48	chr14:65901000-65904400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr14:65901200-65902000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr14:65901200-65902400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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