Variant report

Variant	rs12116355
Chromosome Location	chrX:109487650-109487651
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:109486591..109488728-chrX:109558999..109562427,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101935	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10521527	0.88[MKK][hapmap]
rs12115909	1.00[MEX][hapmap]
rs12116084	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.90[YRI][hapmap]
rs16985950	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.82[YRI][hapmap]
rs16985968	1.00[MEX][hapmap]
rs16985992	1.00[MEX][hapmap]
rs6567848	1.00[MEX][hapmap]
rs7062603	0.84[ASW][hapmap];1.00[MEX][hapmap]
rs7887044	1.00[MEX][hapmap]

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:109481600-109487800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chrX:109481600-109489800	Weak transcription	K562	blood
3	chrX:109482000-109489800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chrX:109482400-109489000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chrX:109482800-109489600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chrX:109483600-109491400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chrX:109485200-109488400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chrX:109485400-109488000	Enhancers	NHEK	skin
9	chrX:109485600-109490200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chrX:109486000-109490200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chrX:109486000-109501400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chrX:109486200-109490600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chrX:109486200-109490600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chrX:109486400-109489200	Enhancers	H9 Cell Line	embryonic stem cell
15	chrX:109486400-109490400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chrX:109486800-109487800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chrX:109487400-109490400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chrX:109487600-109487800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chrX:109487600-109487800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chrX:109487600-109490800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chrX:109487600-109494800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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