Variant report

Variant	rs1158254
Chromosome Location	chr1:94938269-94938270
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10157506	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1034363	0.88[EUR][1000 genomes]
rs1041282	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11165149	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11576665	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11581292	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11582033	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11585880	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12120731	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12127355	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12130330	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12131298	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12143221	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12143512	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16946	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17410399	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1983859	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2050648	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2147794	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2296382	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2794470	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4148042	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4148050	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4148052	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4148056	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4148060	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4536006	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4847303	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55801886	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56353982	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61772847	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61772851	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61772854	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs698950	0.84[EUR][1000 genomes]
rs7555399	0.91[EUR][1000 genomes]
rs841692	0.88[EUR][1000 genomes]
rs841695	0.87[EUR][1000 genomes]
rs927728	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs966176	0.91[EUR][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	nsv871097	chr1:94850443-94941890	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv546851	chr1:94916649-94941376	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	nsv871764	chr1:94917402-95004084	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv531881	chr1:94937444-95053785	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94913800-94974200	Weak transcription	Psoas Muscle	Psoas
2	chr1:94914200-94951800	Weak transcription	Brain Angular Gyrus	brain
3	chr1:94914800-94985800	Weak transcription	NHLF	lung
4	chr1:94915400-94993200	Weak transcription	HSMMtube	muscle
5	chr1:94915800-94955400	Weak transcription	NHDF-Ad	bronchial
6	chr1:94915800-94956600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:94916000-94941800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:94916000-94957200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:94916000-94969600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:94916000-94970000	Weak transcription	Ovary	ovary
11	chr1:94916000-94970000	Weak transcription	Spleen	Spleen
12	chr1:94916000-94973800	Weak transcription	Pancreas	Pancrea
13	chr1:94916000-94993000	Weak transcription	Esophagus	oesophagus
14	chr1:94916200-94968400	Weak transcription	Gastric	stomach
15	chr1:94916200-94971600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:94916200-94974200	Weak transcription	Lung	lung
17	chr1:94917200-94964400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:94917800-94971800	Weak transcription	NHEK	skin
19	chr1:94917800-95000800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:94918000-94942000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:94918000-94957000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:94918800-94941600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr1:94919000-94942800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:94920600-94948400	Weak transcription	Small Intestine	intestine
25	chr1:94921000-94957800	Weak transcription	Brain Germinal Matrix	brain
26	chr1:94923200-94942000	Weak transcription	Right Ventricle	heart
27	chr1:94923600-94956400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:94923600-94956600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:94923800-94941800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:94923800-94948000	Weak transcription	NH-A	brain
31	chr1:94923800-95000400	Weak transcription	Aorta	Aorta
32	chr1:94924000-94947000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:94924000-94964400	Weak transcription	GM12878-XiMat	blood
34	chr1:94924800-94968400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:94926600-94950400	Weak transcription	Primary B cells from cord blood	blood
36	chr1:94929000-94938600	Weak transcription	Brain Substantia Nigra	brain
37	chr1:94929000-94954200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:94929000-94957200	Weak transcription	Colonic Mucosa	Colon
39	chr1:94929200-94941800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:94929400-94941600	Weak transcription	HUVEC	blood vessel
41	chr1:94929400-94947000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr1:94929400-94980200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr1:94929600-94938800	Strong transcription	HepG2	liver
44	chr1:94929600-94942000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:94929600-94955400	Weak transcription	Fetal Heart	heart
46	chr1:94929600-94985400	Weak transcription	Fetal Brain Female	brain
47	chr1:94929800-94944800	Weak transcription	A549	lung
48	chr1:94929800-94945200	Weak transcription	Stomach Mucosa	stomach
49	chr1:94930800-94941600	Weak transcription	Fetal Kidney	kidney
50	chr1:94930800-94941800	Weak transcription	Fetal Muscle Trunk	muscle

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