Variant report

Variant	rs4081383
Chromosome Location	chrX:109330737-109330738
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11152597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap]
rs11797230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12841904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs1418393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1623948	1.00[JPT][hapmap]
rs1770343	1.00[JPT][hapmap]
rs1774690	1.00[JPT][hapmap]
rs2066364	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[TSI][hapmap]
rs2795994	1.00[JPT][hapmap]
rs2881449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs34247395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4421522	0.88[CHB][hapmap];0.85[CHD][hapmap]
rs4628434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs4893450	0.88[CHB][hapmap]
rs5942620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs5942626	0.88[CHB][hapmap];0.85[CHD][hapmap]
rs5942628	0.88[CHB][hapmap];0.85[CHD][hapmap]
rs5942629	0.88[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs5942880	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs5942883	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs5942886	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.96[TSI][hapmap];0.87[YRI][hapmap]
rs5942887	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap]
rs5942890	0.88[CHB][hapmap];0.85[CHD][hapmap]
rs5942896	0.88[CHB][hapmap];0.85[CHD][hapmap]
rs5942897	0.88[CHB][hapmap];0.85[CHD][hapmap]
rs5985271	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs5985439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs5985440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs5985442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs5985446	0.88[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs946820	1.00[JPT][hapmap]
rs946821	1.00[JPT][hapmap]
rs946822	1.00[JPT][hapmap]
rs947592	0.88[CHB][hapmap];1.00[CHD][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	nsv531154	chrX:108934095-109332109	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	130 gene(s)	inside rSNPs	diseases
2	esv3369563	chrX:109079631-109573656	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	142 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:109267200-109377800	Weak transcription	Primary T cells fromperipheralblood	blood
2	chrX:109280200-109331800	Weak transcription	Primary B cells from cord blood	blood
3	chrX:109324200-109331000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chrX:109325400-109330800	Weak transcription	Right Atrium	heart
5	chrX:109325400-109339000	Weak transcription	Gastric	stomach
6	chrX:109325600-109331000	Weak transcription	Lung	lung
7	chrX:109325600-109331800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chrX:109326000-109330800	Weak transcription	Fetal Heart	heart
9	chrX:109326000-109331000	Weak transcription	Brain Hippocampus Middle	brain
10	chrX:109328600-109334000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chrX:109328800-109331200	Enhancers	HepG2	liver
12	chrX:109328800-109331200	Enhancers	NHLF	lung
13	chrX:109328800-109331200	Enhancers	Osteobl	bone
14	chrX:109328800-109332200	Enhancers	NHDF-Ad	bronchial
15	chrX:109328800-109332800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chrX:109328800-109333800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chrX:109329000-109331200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chrX:109329000-109331400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chrX:109329200-109330800	Weak transcription	Pancreas	Pancrea
20	chrX:109329200-109330800	Weak transcription	Spleen	Spleen
21	chrX:109329200-109334000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chrX:109329400-109330800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chrX:109329400-109331400	Enhancers	Fetal Intestine Small	intestine
24	chrX:109329600-109333000	Weak transcription	Primary T cells from cord blood	blood
25	chrX:109329800-109330800	Weak transcription	Primary hematopoietic stem cells	blood
26	chrX:109329800-109331400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chrX:109329800-109331600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chrX:109329800-109331600	Enhancers	K562	blood
29	chrX:109330000-109331000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chrX:109330000-109331000	Enhancers	HSMMtube	muscle
31	chrX:109330000-109331400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chrX:109330000-109331800	Active TSS	A549	lung
33	chrX:109330000-109332000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chrX:109330000-109332200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chrX:109330200-109330800	Enhancers	Aorta	Aorta
36	chrX:109330200-109330800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chrX:109330200-109331000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chrX:109330200-109331200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chrX:109330200-109331600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chrX:109330200-109331800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chrX:109330200-109331800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chrX:109330400-109331000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chrX:109330400-109331000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chrX:109330400-109331800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chrX:109330400-109332400	Enhancers	GM12878-XiMat	blood
46	chrX:109330600-109330800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chrX:109330600-109330800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chrX:109330600-109330800	Bivalent Enhancer	Fetal Lung	lung
49	chrX:109330600-109330800	Flanking Active TSS	HMEC	breast
50	chrX:109330600-109330800	Flanking Active TSS	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links