Variant report

Variant	rs17003963
Chromosome Location	chrX:109440496-109440497
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:109427915..109430807-chrX:109439695..109441643,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12009207	0.81[MKK][hapmap]
rs12116084	0.83[YRI][hapmap]
rs16985949	1.00[MEX][hapmap];1.00[YRI][hapmap]
rs16985950	0.83[YRI][hapmap]
rs6642422	1.00[MEX][hapmap]
rs7056091	0.89[ASW][hapmap];0.92[YRI][hapmap]
rs764171	0.92[YRI][hapmap]

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	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
2	nsv518116	chrX:109424029-109630707	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv530248	chrX:109436208-109743686	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:109408400-109443600	Weak transcription	Small Intestine	intestine
2	chrX:109416200-109460400	Weak transcription	Primary B cells from cord blood	blood
3	chrX:109417200-109441600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chrX:109418800-109443200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chrX:109418800-109453200	Weak transcription	Hela-S3	cervix
6	chrX:109420000-109449400	Weak transcription	Fetal Intestine Large	intestine
7	chrX:109421400-109443400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chrX:109422400-109442200	Weak transcription	Pancreas	Pancrea
9	chrX:109422600-109444400	Weak transcription	Duodenum Mucosa	Duodenum
10	chrX:109423600-109444600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chrX:109424200-109443200	Weak transcription	Gastric	stomach
12	chrX:109424400-109453000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chrX:109426200-109447200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chrX:109426200-109448400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chrX:109426200-109448400	Weak transcription	NHEK	skin
16	chrX:109426400-109452000	Weak transcription	Left Ventricle	heart
17	chrX:109426400-109452600	Weak transcription	NHLF	lung
18	chrX:109426600-109459000	Weak transcription	Fetal Intestine Small	intestine
19	chrX:109430200-109445200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chrX:109430200-109452800	Weak transcription	A549	lung
21	chrX:109431400-109443800	Weak transcription	Spleen	Spleen
22	chrX:109432000-109448400	Weak transcription	HSMMtube	muscle
23	chrX:109432400-109441200	Weak transcription	Primary hematopoietic stem cells	blood
24	chrX:109432400-109443600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chrX:109432400-109451000	Weak transcription	Fetal Thymus	thymus
26	chrX:109432600-109443200	Weak transcription	Primary B cells from peripheral blood	blood
27	chrX:109432600-109448000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chrX:109432600-109448200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chrX:109432600-109463200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chrX:109433000-109441400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chrX:109433000-109441800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chrX:109433000-109443000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chrX:109433000-109443600	Weak transcription	Thymus	Thymus
34	chrX:109433000-109460600	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chrX:109433000-109464600	Weak transcription	GM12878-XiMat	blood
36	chrX:109433200-109441000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chrX:109433200-109441200	Weak transcription	Dnd41	blood
38	chrX:109433200-109442600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chrX:109433200-109447800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chrX:109433200-109460600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chrX:109433600-109442200	Weak transcription	Fetal Stomach	stomach
42	chrX:109436200-109441600	Weak transcription	Adipose Nuclei	Adipose
43	chrX:109436200-109445800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chrX:109436600-109445200	Weak transcription	HMEC	breast
45	chrX:109436600-109447000	Weak transcription	Fetal Muscle Trunk	muscle
46	chrX:109436800-109441600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chrX:109436800-109446000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chrX:109437000-109463000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chrX:109437600-109448000	Weak transcription	NH-A	brain
50	chrX:109438000-109441600	Weak transcription	Liver	Liver

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