Variant report

Variant	rs1152888
Chromosome Location	chr12:66605228-66605229
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11176095	0.80[CEU][hapmap];0.83[TSI][hapmap]
rs1152884	0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1152909	0.82[JPT][hapmap]
rs1152911	0.80[CEU][hapmap];0.81[JPT][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs1168757	0.91[CEU][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.91[AMR][1000 genomes]
rs1168758	0.81[CEU][hapmap]
rs1168760	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1168761	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1168772	0.81[CEU][hapmap]
rs1185253	0.91[AMR][1000 genomes]
rs1185630	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12306484	1.00[MEX][hapmap];0.83[TSI][hapmap];0.88[AMR][1000 genomes]
rs12578801	0.81[CHB][hapmap]
rs12578994	0.85[CHB][hapmap]
rs12814606	0.81[CHB][hapmap]
rs12825992	0.85[CEU][hapmap]
rs1625441	1.00[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes]
rs17245364	0.80[CHB][hapmap]
rs1732893	1.00[MEX][hapmap];0.83[TSI][hapmap]
rs1921082	0.85[MEX][hapmap];0.83[TSI][hapmap]
rs2576183	0.82[AMR][1000 genomes]
rs2701644	0.88[AMR][1000 genomes]
rs2701645	0.88[AMR][1000 genomes]
rs2701653	1.00[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes]
rs2701654	0.82[AMR][1000 genomes]
rs2917598	0.88[AMR][1000 genomes]
rs737614	0.81[CHB][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	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
rs1152888	TMBIM4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:28 , 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	chr12:66592200-66606000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:66592400-66628400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:66593400-66606000	Weak transcription	Adipose Nuclei	Adipose
7	chr12:66593400-66613400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:66597600-66623400	Weak transcription	Aorta	Aorta
9	chr12:66597800-66609000	Weak transcription	Stomach Mucosa	stomach
10	chr12:66599000-66608800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:66599200-66605600	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:66603200-66606200	Genic enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:66603800-66605400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:66604000-66620200	Weak transcription	Lung	lung
15	chr12:66604200-66605800	Enhancers	Primary hematopoietic stem cells	blood
16	chr12:66604400-66606000	Enhancers	Primary B cells from cord blood	blood
17	chr12:66604400-66606200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
18	chr12:66604400-66628800	Weak transcription	Right Ventricle	heart
19	chr12:66604800-66605400	Enhancers	NHDF-Ad	bronchial
20	chr12:66604800-66605600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:66604800-66609000	Strong transcription	Left Ventricle	heart
22	chr12:66604800-66610600	Strong transcription	Fetal Lung	lung
23	chr12:66605000-66605400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:66605200-66605400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
25	chr12:66605200-66605600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:66605200-66605600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:66605200-66605600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:66605200-66628800	Weak transcription	Psoas Muscle	Psoas

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