Variant report

Variant	rs547724
Chromosome Location	chrX:154543125-154543126
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11156600	0.86[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap]
rs11887	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap]
rs12013168	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs1393999	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs3105275	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap]
rs3105276	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs35296872	0.91[CHB][hapmap];0.84[MEX][hapmap]
rs480210	0.87[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap]
rs4893113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs492622	1.00[CHB][hapmap];0.96[CHD][hapmap];0.82[GIH][hapmap];0.89[JPT][hapmap];0.94[MEX][hapmap]
rs496740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs499428	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.89[JPT][hapmap];0.94[MEX][hapmap]
rs499669	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap]
rs504984	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.89[JPT][hapmap];0.94[MEX][hapmap]
rs507127	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.89[JPT][hapmap];0.94[MEX][hapmap]
rs516396	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.89[JPT][hapmap];0.89[MEX][hapmap]
rs519641	1.00[CHB][hapmap]
rs520145	1.00[CHB][hapmap]
rs523614	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.89[JPT][hapmap];0.94[MEX][hapmap]
rs524609	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.89[JPT][hapmap];0.94[MEX][hapmap]
rs525161	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.88[JPT][hapmap];0.94[MEX][hapmap]
rs533001	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs542899	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs543054	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap]
rs544582	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.89[JPT][hapmap];0.94[MEX][hapmap]
rs559165	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.89[JPT][hapmap];0.94[MEX][hapmap]
rs568396	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.89[MEX][hapmap]
rs573189	0.87[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap]
rs573572	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.94[MEX][hapmap]
rs5940510	1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[JPT][hapmap];0.94[MEX][hapmap]
rs5945296	0.87[ASW][hapmap]
rs5983697	0.91[CHB][hapmap]
rs5983764	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs6567813	0.91[CHB][hapmap];0.96[CHD][hapmap];0.94[MEX][hapmap]
rs782769	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.89[JPT][hapmap];0.94[MEX][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	nsv916671	chrX:154418093-154560374	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv532966	chrX:154418093-154721378	Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv29972	chrX:154418093-154929412	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv532965	chrX:154418093-155226096	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv532967	chrX:154418093-155252027	Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv534387	chrX:154455491-154560375	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs547724	TMLHE	cis	multi-tissue	Pritchard
rs547724	F8A1	cis	lymphoblastoid	seeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:154528600-154556000	Weak transcription	K562	blood
2	chrX:154542000-154543800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chrX:154542600-154543200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chrX:154543000-154543600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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