Variant report

Variant	rs12823732
Chromosome Location	chr12:66527050-66527051
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:66523792..66527078-chr12:66561013..66565049,6	MCF-7	breast:
2	chr12:66526618..66528298-chr12:66533657..66535201,2	MCF-7	breast:
3	chr12:66512970..66515802-chr12:66525883..66527400,2	MCF-7	breast:
4	chr12:66523095..66527368-chr12:66532414..66535159,4	MCF-7	breast:
5	chr12:66524217..66527472-chr12:66531631..66536698,7	K562	blood:
6	chr12:66526136..66528056-chr12:66612533..66614066,2	K562	blood:

Variant related genes	Relation type
ENSG00000155957	Chromatin interaction

Extended variants
information (count: 69 )
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]
rs11176062	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]
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:6 , 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	esv1009248	chr12:66525948-66530263	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv2607781	chr12:66526818-66530397	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12823732	TMBIM4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66525000-66531200	Weak transcription	Lung	lung
2	chr12:66525000-66533200	Weak transcription	Gastric	stomach
3	chr12:66525200-66530000	Weak transcription	Placenta	Placenta
4	chr12:66525200-66533200	Weak transcription	Esophagus	oesophagus
5	chr12:66525200-66533200	Weak transcription	Pancreas	Pancrea
6	chr12:66525200-66534400	Weak transcription	Small Intestine	intestine
7	chr12:66525400-66527200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:66525400-66530000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:66525400-66530000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:66525400-66530000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:66525400-66530000	Weak transcription	Brain Germinal Matrix	brain
12	chr12:66525400-66530000	Weak transcription	Fetal Intestine Large	intestine
13	chr12:66525400-66530000	Weak transcription	Fetal Kidney	kidney
14	chr12:66525400-66530000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:66525400-66530200	Weak transcription	Ovary	ovary
16	chr12:66525400-66533200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:66525400-66533200	Weak transcription	Spleen	Spleen
18	chr12:66525400-66533400	Weak transcription	Aorta	Aorta
19	chr12:66525400-66533400	Weak transcription	Fetal Brain Male	brain
20	chr12:66525400-66534400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:66525400-66562400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:66525600-66527600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:66525600-66529800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:66525600-66530000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:66525600-66530000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr12:66525600-66530000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:66525600-66530000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr12:66525600-66530000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:66525600-66530000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:66525600-66530000	Weak transcription	Adipose Nuclei	Adipose
31	chr12:66525600-66530000	Weak transcription	Brain Anterior Caudate	brain
32	chr12:66525600-66530000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:66525600-66530000	Weak transcription	Colon Smooth Muscle	Colon
34	chr12:66525600-66530000	Weak transcription	Fetal Brain Female	brain
35	chr12:66525600-66530000	Weak transcription	Fetal Thymus	thymus
36	chr12:66525600-66530000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:66525600-66530000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:66525600-66531800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:66525600-66533200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:66525600-66533400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:66525600-66533400	Weak transcription	Brain Substantia Nigra	brain
42	chr12:66525600-66533600	Weak transcription	Right Ventricle	heart
43	chr12:66525600-66536000	Weak transcription	Brain Hippocampus Middle	brain
44	chr12:66525600-66536400	Weak transcription	Stomach Mucosa	stomach
45	chr12:66525600-66549000	Weak transcription	Colonic Mucosa	Colon
46	chr12:66525600-66552400	Weak transcription	Brain Angular Gyrus	brain
47	chr12:66525600-66561800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:66525800-66529800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr12:66525800-66530000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr12:66525800-66532400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links