Variant report

Variant	rs5971516
Chromosome Location	chrX:29508851-29508852
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12862650	0.86[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs2006793	1.00[ASW][hapmap];0.90[CEU][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];0.88[TSI][hapmap]
rs2050063	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2050064	0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs2206335	0.81[ASW][hapmap]
rs2206338	0.90[CEU][hapmap]
rs4829190	0.82[TSI][hapmap]
rs4829197	0.90[CEU][hapmap];0.87[CHB][hapmap];0.88[CHD][hapmap];0.91[TSI][hapmap]
rs5971495	0.90[CEU][hapmap];0.88[CHD][hapmap];0.88[TSI][hapmap]
rs5971515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5971517	0.81[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap]
rs5972125	0.81[ASW][hapmap]
rs5972179	0.90[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];0.94[TSI][hapmap]
rs5972233	0.81[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs5972234	0.80[CEU][hapmap];0.93[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs5972236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs5972238	0.81[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs5972241	0.80[CEU][hapmap];0.93[CHB][hapmap];0.82[CHD][hapmap];0.93[JPT][hapmap];0.88[TSI][hapmap]
rs6526862	0.84[CEU][hapmap]
rs6526863	0.90[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];0.91[TSI][hapmap]
rs6526869	0.90[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap]
rs6526871	0.80[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap]
rs6630883	0.84[CHB][hapmap]
rs7063024	0.81[JPT][hapmap]
rs7063105	0.95[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.89[YRI][hapmap]
rs7065566	0.95[CEU][hapmap];0.81[CHB][hapmap];0.85[CHD][hapmap];0.91[TSI][hapmap]
rs7065783	0.95[CEU][hapmap];0.81[CHB][hapmap];0.85[CHD][hapmap];0.91[TSI][hapmap]
rs7066818	0.90[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432292	chrX:29109744-29845461	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
2	nsv531754	chrX:29147023-29533186	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv531766	chrX:29225499-29928832	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv948944	chrX:29398264-29902917	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv869450	chrX:29433295-29940875	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:29508200-29509200	Weak transcription	GM12878-XiMat	blood
2	chrX:29508400-29510600	Enhancers	A549	lung
3	chrX:29508600-29510600	Enhancers	Fetal Heart	heart

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