Variant report

Variant	rs12116272
Chromosome Location	chrX:109485827-109485828
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:109405968..109406593-chrX:109485695..109486234,2	MCF-7	breast:
2	chrX:109470939..109473753-chrX:109483431..109486328,2	MCF-7	breast:
3	chrX:109484235..109485966-chrX:109614166..109615684,2	MCF-7	breast:
4	chrX:109416328..109417284-chrX:109485501..109486194,3	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv7036	chrX:109484702-109529468	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:109471200-109486400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chrX:109481400-109486400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chrX:109481600-109486000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chrX:109481600-109487800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chrX:109481600-109489800	Weak transcription	K562	blood
6	chrX:109481800-109487600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chrX:109482000-109489800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chrX:109482400-109486400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chrX:109482400-109489000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chrX:109482800-109486200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chrX:109482800-109489600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chrX:109483600-109491400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chrX:109485000-109486000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chrX:109485000-109486400	Enhancers	Stomach Mucosa	stomach
15	chrX:109485000-109486600	Enhancers	HMEC	breast
16	chrX:109485200-109488400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chrX:109485400-109486000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chrX:109485400-109488000	Enhancers	NHEK	skin
19	chrX:109485600-109486000	Weak transcription	NHDF-Ad	bronchial
20	chrX:109485600-109487600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chrX:109485600-109490200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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