Variant report

Variant	rs16985949
Chromosome Location	chrX:109467533-109467534
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs17003963	1.00[MEX][hapmap];1.00[YRI][hapmap]
rs5942920	1.00[MEX][hapmap]
rs6642422	1.00[MEX][hapmap]
rs7056091	0.96[LWK][hapmap];0.97[MKK][hapmap];0.86[YRI][hapmap]
rs764171	0.89[LWK][hapmap];0.83[MKK][hapmap];0.86[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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:109445400-109468600	Weak transcription	K562	blood
2	chrX:109445400-109472800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chrX:109445600-109472600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chrX:109454200-109471800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chrX:109455400-109472200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chrX:109459800-109472200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chrX:109461000-109471000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chrX:109461200-109472600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chrX:109463400-109470200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chrX:109463600-109472600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chrX:109464600-109470400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chrX:109464800-109470200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chrX:109464800-109472400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chrX:109464800-109472400	Weak transcription	A549	lung
15	chrX:109467000-109472600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chrX:109467400-109468600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chrX:109467400-109470800	Weak transcription	Left Ventricle	heart

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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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