Variant report

Variant	rs4148051
Chromosome Location	chr1:94931080-94931081
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1023058	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11165143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11165150	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12080254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12094329	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12142995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12404710	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12750904	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1415758	0.86[ASN][1000 genomes]
rs4148045	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs4148046	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4424519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4579764	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6656819	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6660167	0.84[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs724829	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7528491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:115 , 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	chr1:94915400-94934000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:94915400-94993200	Weak transcription	HSMMtube	muscle
6	chr1:94915800-94935000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:94915800-94955400	Weak transcription	NHDF-Ad	bronchial
8	chr1:94915800-94956600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:94916000-94932000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:94916000-94941800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:94916000-94957200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr1:94916000-94969600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:94916000-94970000	Weak transcription	Ovary	ovary
14	chr1:94916000-94970000	Weak transcription	Spleen	Spleen
15	chr1:94916000-94973800	Weak transcription	Pancreas	Pancrea
16	chr1:94916000-94993000	Weak transcription	Esophagus	oesophagus
17	chr1:94916200-94968400	Weak transcription	Gastric	stomach
18	chr1:94916200-94971600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:94916200-94974200	Weak transcription	Lung	lung
20	chr1:94917200-94964400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:94917800-94971800	Weak transcription	NHEK	skin
22	chr1:94917800-95000800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:94918000-94942000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr1:94918000-94957000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:94918800-94941600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr1:94919000-94942800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:94920600-94948400	Weak transcription	Small Intestine	intestine
28	chr1:94921000-94957800	Weak transcription	Brain Germinal Matrix	brain
29	chr1:94923000-94932000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:94923200-94942000	Weak transcription	Right Ventricle	heart
31	chr1:94923600-94956400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:94923600-94956600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:94923800-94941800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:94923800-94948000	Weak transcription	NH-A	brain
35	chr1:94923800-95000400	Weak transcription	Aorta	Aorta
36	chr1:94924000-94947000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:94924000-94964400	Weak transcription	GM12878-XiMat	blood
38	chr1:94924800-94968400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:94925600-94935000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:94925800-94931400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:94926400-94932000	Weak transcription	Fetal Lung	lung
42	chr1:94926600-94950400	Weak transcription	Primary B cells from cord blood	blood
43	chr1:94928000-94934400	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:94928400-94933800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:94928600-94931200	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr1:94928800-94932200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:94928800-94936800	Strong transcription	HSMM	muscle
48	chr1:94929000-94938600	Weak transcription	Brain Substantia Nigra	brain
49	chr1:94929000-94954200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:94929000-94957200	Weak transcription	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links