Variant report

Variant	rs11156600
Chromosome Location	chrX:154440161-154440162
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chrX:154439812-154440199	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:154439521..154442406-chrX:154443106..154447353,6	K562	blood:
2	chrX:154438442..154440385-chrX:154445237..154447787,2	MCF-7	breast:
3	chrX:154438122..154441036-chrX:154442187..154445209,4	MCF-7	breast:
4	chrX:154434972..154436497-chrX:154439147..154441283,2	K562	blood:
5	chrX:154440008..154442406-chrX:154443755..154447353,4	K562	blood:

No data

Variant related genes	Relation type
VBP1	TF binding region
ENSG00000155959	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11887	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap]
rs12013168	1.00[CHB][hapmap]
rs1393999	1.00[CHB][hapmap]
rs3105275	1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[MEX][hapmap]
rs3105276	1.00[CHB][hapmap]
rs35296872	0.85[ASW][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.83[LWK][hapmap];0.89[MEX][hapmap];0.94[MKK][hapmap]
rs480210	1.00[CHB][hapmap];0.92[CHD][hapmap];0.84[MEX][hapmap]
rs4893113	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs492622	1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[MEX][hapmap]
rs496740	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs499428	1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[MEX][hapmap]
rs499669	0.86[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap]
rs504984	1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[MEX][hapmap]
rs507127	1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[MEX][hapmap]
rs516396	1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[MEX][hapmap]
rs519641	1.00[CHB][hapmap]
rs520145	1.00[CHB][hapmap]
rs523614	1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[MEX][hapmap]
rs524609	1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[MEX][hapmap]
rs525161	1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[MEX][hapmap]
rs533001	1.00[CHB][hapmap]
rs542899	1.00[CHB][hapmap]
rs543054	1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[MEX][hapmap]
rs544582	1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[MEX][hapmap]
rs547724	0.86[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap]
rs559165	1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[MEX][hapmap]
rs568396	1.00[CHB][hapmap];0.96[CHD][hapmap];0.83[MEX][hapmap]
rs573189	1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[MEX][hapmap]
rs573572	1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[MEX][hapmap]
rs5983697	0.91[CHB][hapmap]
rs5983764	1.00[CHB][hapmap]
rs5987090	1.00[JPT][hapmap]
rs6567813	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap]
rs782769	1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[MEX][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11156600	TMLHE	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:154439600-154443600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chrX:154440000-154440200	Enhancers	Spleen	Spleen

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