Variant report

Variant	rs11929326
Chromosome Location	chr3:110149029-110149030
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:110148648..110150242-chr3:110157242..110158931,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11918532	0.92[CEU][hapmap];1.00[TSI][hapmap]
rs11919536	0.81[EUR][1000 genomes]
rs11919579	0.82[EUR][1000 genomes]
rs11919615	0.82[EUR][1000 genomes]
rs11919803	0.92[CEU][hapmap]
rs11921362	0.92[CEU][hapmap];0.95[TSI][hapmap]
rs13062229	0.82[EUR][1000 genomes]
rs13085149	0.92[CEU][hapmap]
rs13085783	0.92[CEU][hapmap]
rs13095646	0.82[EUR][1000 genomes]
rs1398346	1.00[CEU][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs1512516	0.92[CEU][hapmap];0.95[TSI][hapmap]
rs1588653	0.92[CEU][hapmap]
rs2055966	0.81[CHD][hapmap]
rs2399335	0.81[CHD][hapmap]
rs34104162	0.82[EUR][1000 genomes]
rs34288358	0.82[EUR][1000 genomes]
rs34340792	0.82[EUR][1000 genomes]
rs35007067	0.82[EUR][1000 genomes]
rs35332363	0.82[EUR][1000 genomes]
rs35372780	0.81[ASN][1000 genomes]
rs35762671	0.82[EUR][1000 genomes]
rs35904317	0.82[EUR][1000 genomes]
rs4407426	0.81[EUR][1000 genomes]
rs4682580	0.81[EUR][1000 genomes]
rs62269437	0.86[ASN][1000 genomes]
rs62269438	0.86[ASN][1000 genomes]
rs62269439	0.88[ASN][1000 genomes]
rs67334734	0.82[EUR][1000 genomes]
rs67852605	0.82[EUR][1000 genomes]
rs68033873	0.82[EUR][1000 genomes]
rs73209573	0.82[EUR][1000 genomes]
rs7634524	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs9815868	0.80[CHD][hapmap]
rs9843950	0.81[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877332	chr3:109575764-110186611	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv460818	chr3:110007205-110155824	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv591272	chr3:110007205-110155824	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv829669	chr3:110022724-110188397	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv460819	chr3:110080893-110194026	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv470838	chr3:110083045-110194026	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv591273	chr3:110087264-110194026	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv877337	chr3:110091627-110186611	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv999414	chr3:110103126-110340180	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv1838188	chr3:110134108-110173739	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv829670	chr3:110134650-110308256	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11929326	BTLA	cis	parietal	SCAN
rs11929326	IFT57	cis	parietal	SCAN
rs11929326	CCDC80	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110148600-110149200	Enhancers	NHDF-Ad	bronchial
2	chr3:110148600-110149400	Enhancers	HSMM	muscle
3	chr3:110148600-110149600	Enhancers	HSMMtube	muscle
4	chr3:110148800-110149200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:110148800-110149400	Enhancers	Osteobl	bone

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