Variant report

Variant	rs1185630
Chromosome Location	chr12:66597419-66597420
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:66585658..66587971-chr12:66595834..66597554,2	MCF-7	breast:
2	chr12:66561052..66563849-chr12:66595692..66600128,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155957	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1152884	0.80[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1152888	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1152909	0.83[JPT][hapmap]
rs1152911	0.81[JPT][hapmap];0.86[EUR][1000 genomes]
rs1168757	0.82[CEU][hapmap];0.86[CHB][hapmap];0.91[AMR][1000 genomes]
rs1168758	0.86[CHB][hapmap]
rs1168760	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1168772	0.86[CHB][hapmap]
rs1185253	0.91[AMR][1000 genomes]
rs12306484	0.82[CHB][hapmap];0.88[AMR][1000 genomes]
rs1625441	0.82[CHB][hapmap];0.82[AMR][1000 genomes]
rs2576183	0.82[AMR][1000 genomes]
rs2701644	0.88[AMR][1000 genomes]
rs2701645	0.88[AMR][1000 genomes]
rs2701653	0.82[CHB][hapmap];0.82[AMR][1000 genomes]
rs2701654	0.82[AMR][1000 genomes]
rs2917598	0.88[AMR][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	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
4	nsv899216	chr12:66563835-66716844	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv541517	chr12:66576953-66639823	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1185630	TMBIM4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66583800-66623400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:66589400-66606000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:66589600-66623400	Weak transcription	Spleen	Spleen
4	chr12:66592200-66598000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:66592200-66604400	Weak transcription	NHDF-Ad	bronchial
6	chr12:66592200-66606000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:66592400-66603400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:66592400-66628400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:66593400-66606000	Weak transcription	Adipose Nuclei	Adipose
10	chr12:66593400-66613400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:66593800-66598400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:66594400-66598200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr12:66594400-66598800	Weak transcription	Fetal Lung	lung
14	chr12:66594600-66603800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:66595600-66597600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:66597000-66597800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr12:66597000-66597800	Enhancers	Stomach Mucosa	stomach
18	chr12:66597200-66598800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr12:66597200-66598800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:66597200-66603200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr12:66597400-66597800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:66597400-66598000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:66597400-66603200	Strong transcription	Primary monocytes fromperipheralblood	blood

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