Variant report

Variant	rs5985271
Chromosome Location	chrX:109354937-109354938
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11152597	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs11797230	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs12841904	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap]
rs1418393	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs1623948	1.00[JPT][hapmap]
rs1770343	0.81[ASW][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.87[MKK][hapmap]
rs1774690	1.00[JPT][hapmap]
rs1774691	0.81[ASW][hapmap];0.82[MEX][hapmap];0.87[MKK][hapmap]
rs2066364	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2791640	1.00[ASW][hapmap];0.85[GIH][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap]
rs2795993	1.00[ASW][hapmap];0.85[GIH][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap]
rs2795994	1.00[JPT][hapmap]
rs2881449	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs34247395	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap]
rs4081383	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs4421522	0.88[CHB][hapmap];0.85[CHD][hapmap]
rs4628434	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs4893450	0.88[CHB][hapmap]
rs5942620	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][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[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap]
rs5942883	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs5942886	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap]
rs5942887	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap]
rs5942890	0.88[CHB][hapmap];0.85[CHD][hapmap];0.83[MEX][hapmap]
rs5942896	0.88[CHB][hapmap];0.85[CHD][hapmap]
rs5942897	0.88[CHB][hapmap];0.85[CHD][hapmap];0.83[MEX][hapmap]
rs5985439	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs5985440	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs5985442	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs5985446	0.88[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs6642423	0.81[ASW][hapmap]
rs946820	0.81[ASW][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.92[MKK][hapmap]
rs946821	1.00[JPT][hapmap]
rs946822	1.00[ASW][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap]
rs947592	0.89[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:109267200-109377800	Weak transcription	Primary T cells fromperipheralblood	blood
2	chrX:109331200-109382400	Weak transcription	Right Ventricle	heart
3	chrX:109331600-109363200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chrX:109333600-109365200	Weak transcription	Primary T cells from cord blood	blood
5	chrX:109334000-109402600	Weak transcription	Primary B cells from cord blood	blood
6	chrX:109338000-109362800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chrX:109339800-109357800	Weak transcription	Spleen	Spleen
8	chrX:109340000-109357400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chrX:109341600-109356400	Weak transcription	K562	blood
10	chrX:109346800-109366200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chrX:109346800-109378000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chrX:109349800-109356400	Weak transcription	Fetal Heart	heart
13	chrX:109350200-109368800	Weak transcription	Psoas Muscle	Psoas
14	chrX:109350200-109374600	Weak transcription	Esophagus	oesophagus
15	chrX:109350200-109385200	Weak transcription	Pancreas	Pancrea
16	chrX:109350400-109356000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chrX:109350800-109361200	Weak transcription	Fetal Thymus	thymus
18	chrX:109350800-109364600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chrX:109350800-109371200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chrX:109351400-109368400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chrX:109351600-109380200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chrX:109352400-109356200	Strong transcription	Fetal Intestine Large	intestine
23	chrX:109352400-109357600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chrX:109352400-109364800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chrX:109352400-109402400	Weak transcription	Primary B cells from peripheral blood	blood
26	chrX:109352400-109414000	Weak transcription	Dnd41	blood
27	chrX:109352600-109355000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chrX:109352600-109363200	Weak transcription	Adipose Nuclei	Adipose
29	chrX:109352800-109357400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chrX:109353000-109356400	Weak transcription	Fetal Intestine Small	intestine
31	chrX:109353000-109368800	Weak transcription	Left Ventricle	heart
32	chrX:109353000-109375400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chrX:109353200-109356000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chrX:109353200-109356000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chrX:109353200-109389000	Weak transcription	Hela-S3	cervix
36	chrX:109353400-109356000	Weak transcription	Brain Hippocampus Middle	brain
37	chrX:109353800-109355800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chrX:109354000-109355000	Strong transcription	Ovary	ovary
39	chrX:109354000-109363200	Weak transcription	A549	lung
40	chrX:109354200-109376800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chrX:109354200-109382400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chrX:109354400-109355800	Weak transcription	Duodenum Mucosa	Duodenum
43	chrX:109354400-109356000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chrX:109354600-109355600	Weak transcription	Fetal Stomach	stomach
45	chrX:109354600-109355800	Strong transcription	Fetal Muscle Leg	muscle
46	chrX:109354800-109355800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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