Variant report

Variant	rs5976315
Chromosome Location	chrX:138306639-138306640
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12008913	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap]
rs4145397	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap]
rs4145398	1.00[CEU][hapmap]
rs5974807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs5976316	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap]
rs6418808	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs6528600	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs6635783	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs6635784	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs6654363	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs7471425	0.86[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	nsv525867	chrX:137580983-138439843	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv533984	chrX:137938683-138556308	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv532935	chrX:138281469-138764448	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 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:138305000-138307200	Weak transcription	Psoas Muscle	Psoas
2	chrX:138305600-138306800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chrX:138305600-138306800	Weak transcription	HSMMtube	muscle
4	chrX:138305800-138307000	Weak transcription	K562	blood
5	chrX:138306000-138306800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
6	chrX:138306000-138306800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chrX:138306000-138307000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chrX:138306200-138306800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chrX:138306200-138307200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chrX:138306600-138306800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chrX:138306600-138307000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chrX:138306600-138307200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chrX:138306600-138309000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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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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