Variant report

Variant	rs523649
Chromosome Location	chrX:73668759-73668760
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:73641524..73644343-chrX:73668070..73670153,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10284046	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs1263181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs34974916	1.00[CHB][hapmap]
rs473645	1.00[CHB][hapmap]
rs479640	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs484079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs485156	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs486485	1.00[CHB][hapmap]
rs4892385	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap]
rs4892386	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap]
rs4892514	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap]
rs496549	0.83[ASW][hapmap];0.94[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap]
rs499282	1.00[CHB][hapmap]
rs500243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap]
rs520684	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs527480	1.00[CHB][hapmap]
rs538732	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap]
rs552075	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs557647	1.00[CHB][hapmap]
rs575348	1.00[CHB][hapmap]
rs5937283	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap]
rs5937811	1.00[CHB][hapmap]
rs5937829	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap]
rs5937831	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap]
rs5937836	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs5937837	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs5937841	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap]
rs5937842	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap]
rs5937843	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs5937844	1.00[CHB][hapmap]
rs5981633	0.84[CEU][hapmap];1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3364045	chrX:72896383-73699363	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	301 gene(s)	inside rSNPs	diseases
2	nsv916758	chrX:73546406-74420929	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv532878	chrX:73603325-74057587	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv521472	chrX:73656415-73878101	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:73643600-73669200	Weak transcription	HSMM	muscle
2	chrX:73645000-73668800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chrX:73660200-73681600	Weak transcription	Brain Hippocampus Middle	brain
4	chrX:73663400-73668800	Weak transcription	A549	lung
5	chrX:73665600-73672200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chrX:73666200-73673800	Enhancers	NHEK	skin
7	chrX:73667800-73672200	Enhancers	Thymus	Thymus
8	chrX:73668400-73669600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chrX:73668400-73670800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chrX:73668400-73673800	Enhancers	HMEC	breast

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