Variant report

Variant	rs5972486
Chromosome Location	chrX:29633695-29633696
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs4128143	0.84[CEU][hapmap]
rs4128144	0.84[CEU][hapmap]
rs4460557	0.81[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap]
rs4829112	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs4829114	0.93[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs4829117	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4829239	0.93[CHB][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs4829242	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4829265	0.81[JPT][hapmap]
rs5927155	0.84[CEU][hapmap]
rs5928161	0.84[CEU][hapmap]
rs5971610	0.84[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap]
rs5972482	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs5972489	0.84[CHD][hapmap];1.00[JPT][hapmap]
rs5972490	1.00[JPT][hapmap]
rs6526899	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6526900	1.00[JPT][hapmap]
rs6526901	1.00[JPT][hapmap]
rs6526904	0.92[CHB][hapmap]
rs6526909	0.82[JPT][hapmap]
rs6526910	0.87[JPT][hapmap]
rs6526911	0.84[CHD][hapmap];1.00[JPT][hapmap]
rs6526912	0.97[GIH][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap]
rs6628459	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs6630916	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs6630917	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs6630918	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs6630924	0.82[JPT][hapmap]
rs7057181	0.85[GIH][hapmap];0.94[JPT][hapmap]
rs9969869	0.81[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	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
4	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
5	nsv523313	chrX:29536125-29648021	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	n/a
6	nsv533340	chrX:29538912-29637668	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	n/a
7	nsv933384	chrX:29541598-29645123	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	n/a
8	nsv869408	chrX:29619835-30341063	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:29631800-29635800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chrX:29633600-29633800	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney

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