Variant report

Variant	esv3495118
Chromosome Location	chr12:7820585-7825883
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	CTCF	chr12:7820700-7820850	GM06990	blood:	n/a	n/a
2	FOXA1	chr12:7821838-7822217	HepG2	liver:	n/a	chr12:7822067-7822082

Variant related genes	Relation type
APOBEC1	TF binding region

Extended variants
information (count: 76 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12318317	chr12:7820719-7820720	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs537440421	chr12:7820728-7820729	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs180677940	chr12:7820761-7820762	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs114561766	chr12:7820785-7820786	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs35321332	chr12:7820794-7820795	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs528469186	chr12:7820875-7820876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377316732	chr12:7820984-7820985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77114651	chr12:7821014-7821015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148058997	chr12:7821056-7821057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185114872	chr12:7821097-7821098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372692740	chr12:7821108-7821109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116035194	chr12:7821183-7821184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190940380	chr12:7821334-7821335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs80098893	chr12:7821342-7821343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76410611	chr12:7821344-7821345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373399847	chr12:7821365-7821366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184037843	chr12:7821370-7821371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7979153	chr12:7821412-7821413	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs55680745	chr12:7821474-7821475	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs551305238	chr12:7821591-7821592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138854316	chr12:7821879-7821880	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs10734858	chr12:7821891-7821892	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs142817605	chr12:7821944-7821945	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs371727528	chr12:7821976-7821977	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs557320232	chr12:7822104-7822105	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs574619051	chr12:7822117-7822118	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs11055147	chr12:7824212-7824213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11055149	chr12:7824244-7824245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537063921	chr12:7824290-7824291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11615642	chr12:7824350-7824351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573854690	chr12:7824392-7824393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373866339	chr12:7824415-7824416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199933517	chr12:7824463-7824464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574431361	chr12:7824520-7824521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541909563	chr12:7824540-7824541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142247691	chr12:7824548-7824549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117328821	chr12:7824557-7824558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12366850	chr12:7824634-7824635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78083126	chr12:7824649-7824650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7307571	chr12:7824725-7824726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs371208769	chr12:7824869-7824870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201896409	chr12:7824976-7824977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200376846	chr12:7824977-7824978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71038714	chr12:7824999-7825000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191960384	chr12:7825025-7825026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565595025	chr12:7825107-7825108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11055158	chr12:7825135-7825136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs184342145	chr12:7825164-7825165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138947283	chr12:7825168-7825169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367721927	chr12:7825215-7825216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	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
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Nasopharyngeal cancer	20548289	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:7818400-7821600	Enhancers	Fetal Intestine Large	intestine
2	chr12:7819600-7821400	Enhancers	Fetal Intestine Small	intestine
3	chr12:7819800-7821400	Enhancers	Duodenum Mucosa	Duodenum
4	chr12:7820200-7820800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:7820400-7820800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:7824200-7846000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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