Variant report

Variant	rs1152911
Chromosome Location	chr12:66633020-66633021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:66630936..66633902-chr12:66659450..66661636,2	MCF-7	breast:
2	chr12:66562047..66564456-chr12:66630707..66633065,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155957	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11176095	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]
rs1152884	0.81[JPT][hapmap]
rs1152888	0.80[CEU][hapmap];0.81[JPT][hapmap];0.83[TSI][hapmap]
rs1152918	0.88[CEU][hapmap]
rs1168757	0.83[TSI][hapmap]
rs1168760	0.80[CEU][hapmap];0.85[JPT][hapmap];0.86[EUR][1000 genomes]
rs1168761	0.86[EUR][1000 genomes]
rs1185630	0.81[JPT][hapmap];0.86[EUR][1000 genomes]
rs3782348	0.88[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
rs1152911	TMBIM4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66615600-66643400	Weak transcription	Stomach Mucosa	stomach
2	chr12:66626600-66633600	Weak transcription	Fetal Lung	lung
3	chr12:66629000-66633200	Weak transcription	Placenta	Placenta
4	chr12:66629400-66636200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:66629400-66637200	Weak transcription	Aorta	Aorta
6	chr12:66629400-66639800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:66629400-66639800	Weak transcription	Spleen	Spleen
8	chr12:66629400-66641800	Weak transcription	Esophagus	oesophagus
9	chr12:66629400-66645000	Weak transcription	Right Ventricle	heart
10	chr12:66629400-66645400	Weak transcription	Gastric	stomach
11	chr12:66629600-66634000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:66629600-66634200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:66629600-66639200	Weak transcription	Ovary	ovary
14	chr12:66629600-66643800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:66629800-66634800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:66629800-66637400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:66629800-66644000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr12:66630000-66633200	Weak transcription	Adipose Nuclei	Adipose
19	chr12:66630000-66635000	Enhancers	Primary B cells from cord blood	blood
20	chr12:66630000-66635000	Weak transcription	NHLF	lung
21	chr12:66630000-66635400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:66630000-66637400	Weak transcription	Brain Substantia Nigra	brain
23	chr12:66630200-66633200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:66630200-66634200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:66630200-66635200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:66631000-66637400	Weak transcription	Left Ventricle	heart
27	chr12:66631000-66650000	Weak transcription	Psoas Muscle	Psoas
28	chr12:66631200-66634200	Weak transcription	Lung	lung
29	chr12:66631200-66634400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:66631200-66637400	Weak transcription	Right Atrium	heart
31	chr12:66631800-66633800	Strong transcription	Primary hematopoietic stem cells	blood
32	chr12:66631800-66644800	Weak transcription	GM12878-XiMat	blood
33	chr12:66632000-66634400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr12:66632000-66634400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:66632000-66644400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:66632200-66634600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr12:66632400-66633200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:66632400-66633200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:66632400-66633800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr12:66632400-66633800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:66632400-66634200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:66632400-66636000	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr12:66632400-66641600	Weak transcription	Fetal Muscle Leg	muscle
44	chr12:66632600-66634200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr12:66632800-66633200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:66632800-66633200	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr12:66632800-66633400	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr12:66632800-66634200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr12:66632800-66634400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr12:66633000-66633200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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