Variant report

Variant	rs11176062
Chromosome Location	chr12:66548624-66548625
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:66547017..66548905-chr12:66563527..66565099,2	MCF-7	breast:
2	chr12:66524399..66526544-chr12:66546427..66548676,2	MCF-7	breast:
3	chr12:66537517..66539175-chr12:66547161..66549206,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239335	Chromatin interaction
ENSG00000155957	Chromatin interaction
ENSG00000139233	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10459263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10506475	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10506479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878379	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10878380	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10878384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10878387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176040	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11176041	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11176042	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11176044	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11176046	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11176047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11176050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11176051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176058	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176059	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168758	0.81[EUR][1000 genomes]
rs1168772	0.81[EUR][1000 genomes]
rs12230221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230800	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12426813	0.90[EUR][1000 genomes]
rs12578364	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12578752	0.93[EUR][1000 genomes]
rs12578754	0.90[EUR][1000 genomes]
rs12578801	1.00[AMR][1000 genomes]
rs12578994	0.93[EUR][1000 genomes]
rs12581033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12581836	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12582384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12814331	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12814606	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12821415	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12822410	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12823414	0.85[EUR][1000 genomes]
rs12823732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12825992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1370129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17245364	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17825943	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1921080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2870786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2904498	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34406211	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34552143	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35085853	0.84[EUR][1000 genomes]
rs35131575	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35187440	0.93[EUR][1000 genomes]
rs35447479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35971570	0.93[EUR][1000 genomes]
rs36073795	0.93[EUR][1000 genomes]
rs4281516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57825508	0.88[ASN][1000 genomes]
rs59112451	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60102429	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66767092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71450848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73315943	0.90[EUR][1000 genomes]
rs737614	0.93[EUR][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	nsv899214	chr12:66516692-66556960	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv541516	chr12:66547969-66596036	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11176062	TMBIM4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66525400-66562400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:66525600-66549000	Weak transcription	Colonic Mucosa	Colon
3	chr12:66525600-66552400	Weak transcription	Brain Angular Gyrus	brain
4	chr12:66525600-66561800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:66526600-66557200	Weak transcription	Psoas Muscle	Psoas
6	chr12:66527000-66554400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:66533800-66553000	Weak transcription	Aorta	Aorta
8	chr12:66533800-66553000	Weak transcription	Spleen	Spleen
9	chr12:66533800-66553800	Weak transcription	Esophagus	oesophagus
10	chr12:66533800-66554400	Weak transcription	Lung	lung
11	chr12:66534600-66555600	Weak transcription	Small Intestine	intestine
12	chr12:66534800-66552800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:66536200-66553600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:66536200-66558000	Weak transcription	Fetal Brain Female	brain
15	chr12:66536400-66549000	Weak transcription	Gastric	stomach
16	chr12:66536400-66552800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:66536400-66553000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:66536400-66556200	Weak transcription	Right Ventricle	heart
19	chr12:66536400-66557600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:66536400-66562400	Weak transcription	HMEC	breast
21	chr12:66536800-66552800	Weak transcription	HSMMtube	muscle
22	chr12:66536800-66556200	Weak transcription	Left Ventricle	heart
23	chr12:66537200-66553000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:66537400-66552400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:66537400-66556200	Weak transcription	Ovary	ovary
26	chr12:66537600-66552600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr12:66538400-66552800	Weak transcription	Fetal Kidney	kidney
28	chr12:66538400-66556200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:66538600-66560400	Weak transcription	Fetal Brain Male	brain
30	chr12:66539000-66552800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:66539000-66553400	Weak transcription	NH-A	brain
32	chr12:66539200-66552800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:66539200-66558400	Weak transcription	A549	lung
34	chr12:66539400-66550000	Weak transcription	Stomach Mucosa	stomach
35	chr12:66539400-66556200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:66539400-66561400	Weak transcription	Fetal Heart	heart
37	chr12:66539400-66562200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr12:66540200-66550600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr12:66541600-66553600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr12:66542600-66550200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr12:66542600-66552800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:66542800-66552800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr12:66542800-66563000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:66543000-66552800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr12:66543200-66552800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr12:66543600-66553000	Weak transcription	Adipose Nuclei	Adipose
47	chr12:66544000-66550000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:66544000-66552800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:66544200-66553000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr12:66544200-66557600	Weak transcription	K562	blood

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