Variant report

Variant	rs1152916
Chromosome Location	chr12:66635304-66635305
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:66522397..66524814-chr12:66633696..66635826,2	MCF-7	breast:
2	chr12:66634026..66637031-chr12:66641100..66643733,3	MCF-7	breast:
3	chr12:66633892..66636332-chr12:66637597..66640156,2	K562	blood:

Variant related genes	Relation type
ENSG00000139233	Chromatin interaction
ENSG00000239335	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11176095	0.82[JPT][hapmap]
rs1152913	0.94[ASN][1000 genomes]

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
rs1152916	TMBIM4	cis	cerebellum	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66615600-66643400	Weak transcription	Stomach Mucosa	stomach
2	chr12:66629400-66636200	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	chr12:66629600-66639200	Weak transcription	Ovary	ovary
10	chr12:66629600-66643800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:66629800-66637400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:66629800-66644000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:66630000-66635400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:66630000-66637400	Weak transcription	Brain Substantia Nigra	brain
15	chr12:66631000-66637400	Weak transcription	Left Ventricle	heart
16	chr12:66631000-66650000	Weak transcription	Psoas Muscle	Psoas
17	chr12:66631200-66637400	Weak transcription	Right Atrium	heart
18	chr12:66631800-66644800	Weak transcription	GM12878-XiMat	blood
19	chr12:66632000-66644400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:66632400-66636000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr12:66632400-66641600	Weak transcription	Fetal Muscle Leg	muscle
22	chr12:66633200-66636000	Enhancers	Adipose Nuclei	Adipose
23	chr12:66633200-66636200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr12:66633200-66636400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr12:66633200-66646400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:66633600-66636200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr12:66633600-66637600	Strong transcription	Fetal Lung	lung
28	chr12:66633800-66635600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:66634000-66640200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:66634200-66636600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:66634200-66638600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:66634400-66635400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:66634400-66637200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:66634400-66637400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:66634400-66638800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:66634400-66645800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr12:66634600-66636200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:66634600-66640000	Weak transcription	Lung	lung
39	chr12:66634600-66641400	Weak transcription	Thymus	Thymus
40	chr12:66634600-66643400	Weak transcription	Fetal Stomach	stomach
41	chr12:66634800-66635400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:66634800-66635800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:66634800-66636400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:66634800-66636400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr12:66635000-66635400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:66635000-66635400	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr12:66635000-66636200	Enhancers	NHDF-Ad	bronchial
48	chr12:66635000-66636400	Enhancers	NHLF	lung
49	chr12:66635000-66637200	Enhancers	HSMM	muscle
50	chr12:66635000-66642400	Strong transcription	Primary hematopoietic stem cells	blood

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