Variant report

Variant	rs3788769
Chromosome Location	chrX:109537062-109537063
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2294504	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs5942915	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6642423	0.87[CHD][hapmap];1.00[JPT][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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:109526200-109543400	Weak transcription	K562	blood
2	chrX:109527600-109537400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chrX:109528200-109537400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chrX:109529800-109539400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chrX:109529800-109553400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chrX:109531400-109537400	Weak transcription	NHDF-Ad	bronchial
7	chrX:109531800-109558000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chrX:109533400-109553400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chrX:109534600-109537200	Weak transcription	Primary B cells from cord blood	blood
10	chrX:109536600-109537200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chrX:109536600-109537800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chrX:109536800-109538200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chrX:109537000-109538000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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