Variant report

Variant	rs1741712
Chromosome Location	chrX:104543535-104543536
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1154791	1.00[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs12394678	1.00[CEU][hapmap]
rs12397034	1.00[CEU][hapmap]
rs1292798	1.00[CEU][hapmap]
rs1321382	1.00[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap]
rs1321383	1.00[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.81[MKK][hapmap]
rs1321385	1.00[CEU][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs1321388	0.87[CHD][hapmap]
rs1406992	0.87[CHD][hapmap]
rs1590197	1.00[CHB][hapmap]
rs16984666	1.00[CEU][hapmap]
rs1736867	1.00[CHB][hapmap];0.87[CHD][hapmap]
rs1736868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1741710	1.00[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs1741713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1741715	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2213327	1.00[CEU][hapmap]
rs2213419	1.00[CEU][hapmap]
rs222582	0.87[CHD][hapmap];0.86[YRI][hapmap]
rs222583	1.00[YRI][hapmap]
rs222584	0.87[CHD][hapmap];0.86[YRI][hapmap]
rs222585	0.87[CHD][hapmap];0.86[YRI][hapmap]
rs222588	1.00[CHB][hapmap];0.87[CHD][hapmap];0.86[YRI][hapmap]
rs222597	0.87[CHD][hapmap]
rs222599	0.85[YRI][hapmap]
rs222601	0.87[CHD][hapmap]
rs2227061	1.00[CEU][hapmap]
rs2392688	1.00[CEU][hapmap]
rs2752572	1.00[CEU][hapmap]
rs2752573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs2752574	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs2858229	1.00[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs5916893	0.87[CHD][hapmap]
rs5916899	0.87[CHD][hapmap];0.86[YRI][hapmap]
rs5916911	1.00[CHB][hapmap]
rs5962268	1.00[CEU][hapmap]
rs5962476	1.00[CEU][hapmap]
rs5962477	1.00[CEU][hapmap]
rs5962481	1.00[CEU][hapmap]
rs5962486	1.00[CEU][hapmap]
rs5962492	1.00[CEU][hapmap]
rs5962497	1.00[CEU][hapmap]
rs5962502	1.00[CHB][hapmap]
rs5962536	1.00[CEU][hapmap];0.87[CHD][hapmap]
rs6418239	1.00[CEU][hapmap]
rs6523832	1.00[CEU][hapmap]
rs6523840	0.87[CHD][hapmap];0.86[YRI][hapmap]
rs6616582	0.87[CHD][hapmap]
rs7063177	1.00[CEU][hapmap]
rs7064331	1.00[CEU][hapmap]
rs736637	1.00[CEU][hapmap]
rs7880209	1.00[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs980736	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432352	chrX:104346855-104831855	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1741712	HBD	trans	lymphoblastoid	seeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:104542400-104547200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chrX:104543200-104544800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chrX:104543200-104545600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chrX:104543400-104543600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chrX:104543400-104544800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chrX:104543400-104544800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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