Variant report

Variant	rs5972404
Chromosome Location	chrX:31560484-31560485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10521971	1.00[CEU][hapmap]
rs1344082	0.91[JPT][hapmap]
rs16989598	1.00[CEU][hapmap]
rs16989677	1.00[CEU][hapmap]
rs2404685	1.00[CEU][hapmap]
rs3788892	1.00[CEU][hapmap]
rs4370684	0.89[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap]
rs5971580	0.89[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs5972397	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs5972413	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs6527098	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs6527103	0.91[JPT][hapmap]
rs6628613	0.91[JPT][hapmap]
rs6631322	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs6631323	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap]
rs6631346	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs6631348	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869389	chrX:31207964-31963300	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv481964	chrX:31270220-31672751	Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv531098	chrX:31462522-31824884	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv481719	chrX:31470100-31807209	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv527085	chrX:31491980-31577462	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv497882	chrX:31537077-31619941	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31559000-31563200	Weak transcription	HUVEC	blood vessel
2	chrX:31560200-31561000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chrX:31560400-31565400	Enhancers	Hela-S3	cervix

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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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