Variant report

Variant	rs11176095
Chromosome Location	chr12:66633685-66633686
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:66633602-66634597	HL-60	blood:	n/a	n/a
2	GATA3	chr12:66633669-66633771	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:66630936..66633902-chr12:66659450..66661636,2	MCF-7	breast:

Variant related genes	Relation type
RBMS1P1	TF binding region
ENSG00000266539	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1152888	0.80[CEU][hapmap];0.83[TSI][hapmap]
rs1152911	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1152916	0.82[JPT][hapmap]
rs1152918	0.88[CEU][hapmap];0.81[CHB][hapmap]
rs1168757	0.83[TSI][hapmap]
rs1168760	0.80[CEU][hapmap]
rs12581836	0.81[CHB][hapmap]
rs3782348	0.86[CHB][hapmap];0.87[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	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
rs11176095	TMBIM4	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66615600-66643400	Weak transcription	Stomach Mucosa	stomach
2	chr12:66629400-66636200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:66629400-66637200	Weak transcription	Aorta	Aorta
4	chr12:66629400-66639800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:66629400-66639800	Weak transcription	Spleen	Spleen
6	chr12:66629400-66641800	Weak transcription	Esophagus	oesophagus
7	chr12:66629400-66645000	Weak transcription	Right Ventricle	heart
8	chr12:66629400-66645400	Weak transcription	Gastric	stomach
9	chr12:66629600-66634000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:66629600-66634200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:66629600-66639200	Weak transcription	Ovary	ovary
12	chr12:66629600-66643800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:66629800-66634800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:66629800-66637400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:66629800-66644000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr12:66630000-66635000	Enhancers	Primary B cells from cord blood	blood
17	chr12:66630000-66635000	Weak transcription	NHLF	lung
18	chr12:66630000-66635400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:66630000-66637400	Weak transcription	Brain Substantia Nigra	brain
20	chr12:66630200-66634200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:66630200-66635200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:66631000-66637400	Weak transcription	Left Ventricle	heart
23	chr12:66631000-66650000	Weak transcription	Psoas Muscle	Psoas
24	chr12:66631200-66634200	Weak transcription	Lung	lung
25	chr12:66631200-66634400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:66631200-66637400	Weak transcription	Right Atrium	heart
27	chr12:66631800-66633800	Strong transcription	Primary hematopoietic stem cells	blood
28	chr12:66631800-66644800	Weak transcription	GM12878-XiMat	blood
29	chr12:66632000-66634400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr12:66632000-66634400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:66632000-66644400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:66632200-66634600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr12:66632400-66633800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr12:66632400-66633800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:66632400-66634200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:66632400-66636000	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr12:66632400-66641600	Weak transcription	Fetal Muscle Leg	muscle
38	chr12:66632600-66634200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr12:66632800-66634200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr12:66632800-66634400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr12:66633000-66634000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:66633200-66634200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:66633200-66634400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr12:66633200-66636000	Enhancers	Adipose Nuclei	Adipose
45	chr12:66633200-66636200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr12:66633200-66636400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr12:66633200-66646400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:66633400-66633800	Weak transcription	Placenta	Placenta
49	chr12:66633600-66636200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr12:66633600-66637600	Strong transcription	Fetal Lung	lung

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