Variant report

Variant	rs7961011
Chromosome Location	chr12:66465385-66465386
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	chr12:66464819..66466975-chr12:66467023..66469422,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10506479	0.82[CHB][hapmap]
rs10748036	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10784515	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10784516	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10878384	0.82[CHB][hapmap]
rs10878388	0.82[CHB][hapmap]
rs11176031	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11176047	0.82[CHB][hapmap]
rs11176051	0.82[CHB][hapmap]
rs11176058	0.82[CHB][hapmap]
rs12230800	0.82[CHB][hapmap]
rs12298245	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12301212	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12422789	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12423372	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs12426813	0.81[ASN][1000 genomes]
rs12581033	0.82[CHB][hapmap]
rs12825992	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs12827665	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1370129	0.82[CHB][hapmap]
rs1921080	0.82[CHB][hapmap]
rs2870786	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs35085853	0.85[ASN][1000 genomes]
rs56788341	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7135814	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7294608	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73315943	0.82[ASN][1000 genomes]
rs7397481	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7954873	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[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	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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7961011	TMBIM4	cis	cerebellum	SCAN
rs7961011	XPOT	cis	parietal	SCAN
rs7961011	WHSC2	trans	brain	seeQTL
rs7961011	MDM1	cis	parietal	SCAN
rs7961011	TMBIM4	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66460800-66466000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:66464200-66465400	Enhancers	Ovary	ovary
3	chr12:66464200-66465400	Enhancers	GM12878-XiMat	blood
4	chr12:66464600-66467000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr12:66464800-66466400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr12:66464800-66466800	Enhancers	Primary hematopoietic stem cells	blood
7	chr12:66464800-66466800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:66465000-66466000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:66465200-66466000	Enhancers	Primary B cells from cord blood	blood
10	chr12:66465200-66466800	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:66465200-66466800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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