Variant report

Variant	rs2294504
Chromosome Location	chrX:109552667-109552668
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:109526368..109528824-chrX:109551344..109553157,2	K562	blood:
2	chrX:109550802..109553804-chrX:109553901..109556388,4	K562	blood:
3	chrX:109552644..109554445-chrX:109632738..109635319,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3788769	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs5942899	1.00[LWK][hapmap]
rs5942909	1.00[LWK][hapmap]
rs5942915	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap]
rs6642423	0.87[CHD][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:109529800-109553400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chrX:109531800-109558000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chrX:109533400-109553400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chrX:109537800-109553600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chrX:109541800-109553600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chrX:109544200-109553600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chrX:109544600-109553600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chrX:109546800-109554000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chrX:109548600-109559400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chrX:109549200-109553400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chrX:109549600-109553200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chrX:109551000-109553000	Weak transcription	GM12878-XiMat	blood
13	chrX:109551200-109553800	Weak transcription	NHEK	skin
14	chrX:109551400-109552800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chrX:109551400-109553000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chrX:109551600-109556600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chrX:109551800-109556200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chrX:109551800-109556400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chrX:109551800-109556600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chrX:109552000-109555000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chrX:109552200-109553400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chrX:109552200-109554000	Weak transcription	Primary T cells from cord blood	blood
23	chrX:109552400-109553800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chrX:109552400-109553800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chrX:109552400-109553800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chrX:109552600-109553000	Genic enhancers	K562	blood
27	chrX:109552600-109553600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chrX:109552600-109554000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chrX:109552600-109555800	Enhancers	Primary T helper cells PMA-I stimulated	--

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