Variant report

Variant	rs11176204
Chromosome Location	chr12:66860154-66860155
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10082937	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10506483	0.90[YRI][hapmap]
rs10506484	0.94[ASN][1000 genomes]
rs10878437	0.86[ASN][1000 genomes]
rs11176203	0.90[YRI][hapmap]
rs11176205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176206	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176222	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12229196	0.95[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12229755	0.93[ASN][1000 genomes]
rs12423909	0.82[JPT][hapmap]
rs12426780	0.90[ASN][1000 genomes]
rs12426810	0.90[ASN][1000 genomes]
rs12581129	0.94[ASN][1000 genomes]
rs12581225	0.93[ASN][1000 genomes]
rs12581452	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12582879	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12820901	0.90[YRI][hapmap]
rs1389326	0.89[ASN][1000 genomes]
rs36193666	0.91[ASN][1000 genomes]
rs3891951	0.86[JPT][hapmap]
rs3920021	0.90[ASN][1000 genomes]
rs4628763	0.92[ASN][1000 genomes]
rs4644699	0.91[ASN][1000 genomes]
rs4913309	0.90[ASN][1000 genomes]
rs4913501	0.89[ASN][1000 genomes]
rs4913510	0.90[ASN][1000 genomes]
rs4913511	0.90[ASN][1000 genomes]
rs4913516	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58459118	0.93[ASN][1000 genomes]
rs66718779	0.91[ASN][1000 genomes]
rs67093681	0.93[ASN][1000 genomes]
rs67385685	0.89[ASN][1000 genomes]
rs67590485	0.93[ASN][1000 genomes]
rs7132569	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132670	0.90[YRI][hapmap]
rs7135945	0.91[ASN][1000 genomes]
rs7304369	0.91[ASN][1000 genomes]
rs7304443	0.91[ASN][1000 genomes]
rs7304485	0.89[ASN][1000 genomes]
rs9989032	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1051713	chr12:66745716-66889411	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv832447	chr12:66785814-66990029	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv469459	chr12:66854354-66950289	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv559206	chr12:66854354-66950289	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11176204	RBMS1	cis	parietal	SCAN
rs11176204	HELB	Cis_1M	lymphoblastoid	RTeQTL
rs11176204	HELB	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66844000-66861600	Weak transcription	Primary T cells from cord blood	blood
2	chr12:66846800-66860200	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:66849400-66866400	Weak transcription	Pancreas	Pancrea
4	chr12:66853000-66876200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:66856800-66868400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:66860000-66860200	Enhancers	Esophagus	oesophagus

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