Variant report

Variant	rs11069806
Chromosome Location	chr13:110455433-110455434
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110437538..110439483-chr13:110454282..110455861,2	K562	blood:
2	chr13:110446043..110447587-chr13:110455015..110457725,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185950	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11069805	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11618950	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.84[ASN][1000 genomes]
rs12427994	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12429603	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57988999	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58117173	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59041354	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6492227	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7333550	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74123779	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74123780	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74123783	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs74123785	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7981170	1.00[CHD][hapmap]
rs7981705	1.00[CHD][hapmap]
rs7987339	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7987651	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7996932	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9301412	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9521516	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9521522	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9583427	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	nsv826788	chr13:110381750-110469062	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv826789	chr13:110387268-110473524	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv826790	chr13:110395165-110463032	Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv826791	chr13:110397733-110462553	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv826792	chr13:110398678-110462209	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11069806	ABHD13	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110455000-110455800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr13:110455000-110455800	Enhancers	Fetal Intestine Small	intestine
3	chr13:110455000-110456600	Enhancers	Liver	Liver
4	chr13:110455000-110456600	Enhancers	HepG2	liver
5	chr13:110455000-110456800	Enhancers	A549	lung
6	chr13:110455200-110455800	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr13:110455200-110456400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:110455400-110455600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:110455400-110455600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
10	chr13:110455400-110455800	Enhancers	Pancreas	Pancrea
11	chr13:110455400-110456000	Enhancers	Stomach Mucosa	stomach
12	chr13:110455400-110456800	Enhancers	HMEC	breast
13	chr13:110455400-110457200	Enhancers	Hela-S3	cervix

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