Variant report

Variant	esv1840059
Chromosome Location	chr12:1365662-1372114
allele	n/a
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	CUX1	chr12:1367912-1367961	GM12878	blood:	n/a	n/a
2	FOS	chr12:1369014-1369217	MCF10A-Er-Src	breast:	n/a	n/a
3	MAFF	chr12:1365489-1365825	K562	blood:	n/a	chr12:1365637-1365655
4	MAFF	chr12:1365463-1365837	HepG2	liver:	n/a	chr12:1365637-1365655
5	MAFK	chr12:1365487-1365824	K562	blood:	n/a	chr12:1365638-1365652 chr12:1365642-1365658 chr12:1365639-1365655 chr12:1365639-1365654 chr12:1365640-1365660
6	MAFK	chr12:1365467-1365822	IMR90	lung:	n/a	chr12:1365638-1365652 chr12:1365642-1365658 chr12:1365639-1365655 chr12:1365639-1365654 chr12:1365640-1365660
7	MAFK	chr12:1365519-1365817	Hela-S3	cervix:	n/a	chr12:1365638-1365652 chr12:1365642-1365658 chr12:1365639-1365655 chr12:1365639-1365654 chr12:1365640-1365660
8	MAFK	chr12:1365465-1365838	HepG2	liver:	n/a	chr12:1365638-1365652 chr12:1365642-1365658 chr12:1365639-1365655 chr12:1365639-1365654 chr12:1365640-1365660
9	MAFK	chr12:1371530-1371651	HepG2	liver:	n/a	n/a
10	MAFK	chr12:1365480-1365834	H1-hESC	embryonic stem cell:	n/a	chr12:1365638-1365652 chr12:1365642-1365658 chr12:1365639-1365655 chr12:1365639-1365654 chr12:1365640-1365660
11	MAFK	chr12:1365479-1365830	HepG2	liver:	n/a	chr12:1365638-1365652 chr12:1365642-1365658 chr12:1365639-1365655 chr12:1365639-1365654 chr12:1365640-1365660
12	MXI1	chr12:1365976-1366048	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:1369789-1369916	GM12878	blood:	n/a	n/a
14	POLR2A	chr12:1370075-1370133	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr12:1366175-1366411	A549	lung:	n/a	n/a
16	POLR2A	chr12:1368729-1368874	GM12878	blood:	n/a	n/a
17	RFX5	chr12:1368331-1368476	K562	blood:	n/a	n/a
18	SPI1	chr12:1371151-1371572	HL-60	blood:	n/a	n/a
19	SPI1	chr12:1371299-1371462	K562	blood:	n/a	n/a
20	SPI1	chr12:1371157-1371606	HL-60	blood:	n/a	n/a
21	STAT3	chr12:1368999-1369280	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:1365739..1369161-chr12:1369581..1373916,5	K562	blood:
2	chr12:1360740..1362305-chr12:1366547..1369167,2	K562	blood:
3	chr12:1365739..1368747-chr12:1369581..1372843,3	K562	blood:

Variant related genes	Relation type
ERC1	TF binding region
ENSG00000082805	chromatin interactions

Extended variants
information (count: 278 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35606528	chr12:1365671-1365672	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs371877475	chr12:1365677-1365678	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs57462889	chr12:1365683-1365684	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556162045	chr12:1365692-1365693	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs535026123	chr12:1365702-1365703	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs368615295	chr12:1365711-1365712	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs568368876	chr12:1365713-1365714	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs191872519	chr12:1365729-1365730	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs117157643	chr12:1365771-1365772	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs183740242	chr12:1365828-1365829	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs546259088	chr12:1365849-1365850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558029142	chr12:1365900-1365901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573062094	chr12:1365934-1365935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535261501	chr12:1365979-1365980	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs188314103	chr12:1365982-1365983	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs561964079	chr12:1366144-1366145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191874777	chr12:1366158-1366159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73027444	chr12:1366185-1366186	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs562489195	chr12:1366190-1366191	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs532912622	chr12:1366199-1366200	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs182677433	chr12:1366242-1366243	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs577126458	chr12:1366262-1366263	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs559776298	chr12:1366270-1366271	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs577463457	chr12:1366321-1366322	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528666587	chr12:1366324-1366325	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568432301	chr12:1366325-1366326	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536132644	chr12:1366350-1366351	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186959598	chr12:1366354-1366355	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs61912031	chr12:1366450-1366451	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs147902610	chr12:1366487-1366488	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1544426	chr12:1366511-1366512	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs373592564	chr12:1366519-1366520	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573326537	chr12:1366532-1366533	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533997067	chr12:1366565-1366566	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555565443	chr12:1366608-1366609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573885926	chr12:1366623-1366624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562984995	chr12:1366683-1366684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576093330	chr12:1366729-1366730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543435289	chr12:1366733-1366734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141588417	chr12:1366753-1366754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147039020	chr12:1366762-1366763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138117402	chr12:1366768-1366769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114422315	chr12:1366777-1366778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559839051	chr12:1366785-1366786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75747135	chr12:1366851-1366852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527353487	chr12:1366864-1366865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149117290	chr12:1366973-1366974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12426549	chr12:1367019-1367020	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs11836807	chr12:1367090-1367091	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs115840575	chr12:1367158-1367159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD
Autism	22495311	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1316800-1366200	Weak transcription	Primary B cells from cord blood	blood
2	chr12:1327200-1391200	Weak transcription	Aorta	Aorta
3	chr12:1329200-1366200	Weak transcription	Lung	lung
4	chr12:1330200-1390600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:1330200-1391400	Weak transcription	Fetal Muscle Leg	muscle
6	chr12:1330400-1372200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:1330400-1373200	Weak transcription	Hela-S3	cervix
8	chr12:1334200-1425000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:1341400-1373000	Weak transcription	Fetal Intestine Small	intestine
10	chr12:1341800-1420000	Weak transcription	Esophagus	oesophagus
11	chr12:1343600-1372000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:1343600-1372000	Weak transcription	Fetal Heart	heart
13	chr12:1343600-1378000	Weak transcription	Gastric	stomach
14	chr12:1343600-1381400	Weak transcription	Right Ventricle	heart
15	chr12:1343600-1390600	Weak transcription	NHLF	lung
16	chr12:1343600-1398800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:1343800-1377800	Weak transcription	A549	lung
18	chr12:1343800-1390800	Weak transcription	HSMMtube	muscle
19	chr12:1344800-1375000	Weak transcription	Fetal Thymus	thymus
20	chr12:1345000-1382800	Weak transcription	Spleen	Spleen
21	chr12:1346000-1372000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:1346200-1372000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:1346400-1375800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:1346800-1366000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:1346800-1372200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:1347000-1366000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr12:1347000-1366000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:1347000-1366200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:1347000-1372200	Weak transcription	Left Ventricle	heart
30	chr12:1347000-1375600	Weak transcription	Brain Germinal Matrix	brain
31	chr12:1347000-1392000	Weak transcription	Psoas Muscle	Psoas
32	chr12:1347200-1366000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:1347200-1366000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr12:1347200-1371200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:1347200-1371800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr12:1347200-1371800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr12:1347200-1374000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr12:1347200-1374600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr12:1347600-1366000	Weak transcription	Liver	Liver
40	chr12:1348000-1370200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:1348000-1372000	Weak transcription	Primary B cells from peripheral blood	blood
42	chr12:1348400-1389600	Weak transcription	NHDF-Ad	bronchial
43	chr12:1348600-1372800	Weak transcription	Fetal Intestine Large	intestine
44	chr12:1348800-1366000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:1348800-1366000	Weak transcription	Ovary	ovary
46	chr12:1348800-1372000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr12:1348800-1372000	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr12:1348800-1373000	Weak transcription	Fetal Stomach	stomach
49	chr12:1349000-1365800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:1349000-1372200	Weak transcription	Fetal Muscle Trunk	muscle

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