Variant report

Variant	rs11158596
Chromosome Location	chr14:65911975-65911976
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10483780	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11158601	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11158602	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11620749	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11621680	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11622014	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11624045	0.88[EUR][1000 genomes]
rs11627084	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11627184	0.80[EUR][1000 genomes]
rs11627185	0.80[EUR][1000 genomes]
rs11628196	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11851576	0.91[ASN][1000 genomes]
rs12589698	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879202	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12879805	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12879971	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12883815	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12886334	0.89[EUR][1000 genomes]
rs12887134	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12889002	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12890123	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12890902	0.83[EUR][1000 genomes]
rs12890978	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12892058	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12895074	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12896663	0.88[EUR][1000 genomes]
rs1953416	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1958561	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2002692	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2149841	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2184603	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2300865	0.81[EUR][1000 genomes]
rs2411355	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2411357	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2411816	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2411822	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3783709	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3825640	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4456409	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4581615	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4899179	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902400	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902407	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67071794	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7146742	0.81[ASN][1000 genomes]
rs7153297	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7154536	0.86[ASN][1000 genomes]
rs7155541	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7161123	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs743085	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7493004	0.80[EUR][1000 genomes]
rs8005710	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8012278	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs867972	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs883081	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs883082	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[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	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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65892800-65929600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr14:65893000-65917600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:65897000-65925600	Weak transcription	Aorta	Aorta
4	chr14:65898400-65935600	Weak transcription	Gastric	stomach
5	chr14:65899200-65913000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:65899600-65929000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:65899800-65917600	Weak transcription	Thymus	Thymus
8	chr14:65900000-65917400	Weak transcription	Fetal Thymus	thymus
9	chr14:65900200-65912800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:65900400-65912800	Weak transcription	Brain Anterior Caudate	brain
11	chr14:65901200-65917800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:65901200-65920200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:65901800-65917600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:65901800-65920200	Weak transcription	Brain Hippocampus Middle	brain
15	chr14:65902200-65927000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr14:65902400-65928400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr14:65903000-65917800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr14:65903200-65917600	Weak transcription	Fetal Stomach	stomach
19	chr14:65903200-65922600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr14:65903200-65925200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:65904200-65912600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr14:65904600-65913000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr14:65905000-65917600	Weak transcription	Brain Germinal Matrix	brain
24	chr14:65905600-65916200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr14:65905600-65918000	Weak transcription	Primary T cells from cord blood	blood
26	chr14:65905800-65918000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr14:65905800-65936600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:65906000-65913000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr14:65906000-65913600	Weak transcription	Brain Angular Gyrus	brain
30	chr14:65906000-65923800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr14:65906000-65926800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr14:65906200-65912000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr14:65906200-65912800	Weak transcription	Brain Substantia Nigra	brain
34	chr14:65906200-65919800	Weak transcription	Ovary	ovary
35	chr14:65906200-65922000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr14:65906600-65922800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr14:65907000-65920400	Weak transcription	K562	blood
38	chr14:65910000-65913600	Weak transcription	Small Intestine	intestine
39	chr14:65910400-65912200	ZNF genes & repeats	GM12878-XiMat	blood
40	chr14:65910600-65913600	Weak transcription	Left Ventricle	heart
41	chr14:65911000-65915600	Strong transcription	Dnd41	blood
42	chr14:65911200-65912800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:65911200-65912800	Weak transcription	Osteobl	bone
44	chr14:65911200-65917800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:65911200-65942400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr14:65911400-65912400	Weak transcription	HMEC	breast
47	chr14:65911600-65912200	ZNF genes & repeats	Fetal Intestine Large	intestine
48	chr14:65911600-65912200	ZNF genes & repeats	Fetal Intestine Small	intestine
49	chr14:65911600-65912800	Weak transcription	NHEK	skin
50	chr14:65911800-65912200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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