Variant report

Variant	rs11176035
Chromosome Location	chr12:66482191-66482192
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:66482001..66484990-chr12:66485106..66488023,2	MCF-7	breast:
2	chr12:65996922..65999592-chr12:66480918..66482502,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 11 )

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

rs_ID	r²[population]
rs10431571	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10506478	0.88[CEU][hapmap];0.81[CHD][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap]
rs10735933	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs10878375	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10878376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10878381	0.81[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap]
rs10878382	0.82[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];0.95[TSI][hapmap]
rs10878383	0.91[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap]
rs10878389	1.00[ASW][hapmap];0.84[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.83[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap]
rs11176043	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs11176056	0.82[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap]
rs11176081	0.86[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap]
rs11176082	0.81[CHB][hapmap];0.81[JPT][hapmap];0.80[MEX][hapmap]
rs12832926	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]
rs17767200	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap]
rs1898304	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs2178486	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs2870781	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs7295147	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs7966561	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs7968356	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7979029	0.96[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][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	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	nsv899213	chr12:66389968-66500036	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv832446	chr12:66393863-66501484	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs11176035	RP11-745O10.2	cis	Whole Blood	GTEx
rs11176035	TMBIM4	cis	cerebellum	SCAN
rs11176035	TMBIM4	cis	normal skin	skin_eQTL
rs11176035	TMBIM4	cis	uninvolved skin	skin_eQTL
rs11176035	RP11-745O10.2	cis	lung	GTEx
rs11176035	TMBIM4	cis	lymphoblastoid	seeQTL
rs11176035	RP11-745O10.2	cis	Skin Sun Exposed Lower leg	GTEx
rs11176035	TMBIM4	cis	parietal	SCAN
rs11176035	TMBIM4	Cis_1M	lymphoblastoid	RTeQTL
rs11176035	RP11-745O10.2	cis	Thyroid	GTEx
rs11176035	TMBIM4	cis	lesional skin	skin_eQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66468800-66486000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:66479600-66482200	Enhancers	HepG2	liver
3	chr12:66481200-66486000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:66481200-66486400	Weak transcription	NH-A	brain
5	chr12:66481200-66486400	Weak transcription	NHDF-Ad	bronchial
6	chr12:66481400-66486000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:66481400-66486000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:66481400-66486000	Weak transcription	Osteobl	bone
9	chr12:66481400-66486400	Weak transcription	HSMM	muscle
10	chr12:66481600-66486000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:66481600-66486000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:66481800-66482200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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