Variant report

Variant	esv2430583
Chromosome Location	chr12:9135219-9136724
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80354449	chr12:9135257-9135258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192182778	chr12:9135281-9135282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111332887	chr12:9135283-9135284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529595236	chr12:9135298-9135299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143261159	chr12:9135304-9135305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183849115	chr12:9135340-9135341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187139772	chr12:9135344-9135345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529773666	chr12:9135352-9135353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563025987	chr12:9135370-9135371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192637575	chr12:9135400-9135401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs151245612	chr12:9135489-9135490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546279783	chr12:9135508-9135509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76829886	chr12:9135578-9135579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371204863	chr12:9135588-9135589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147107163	chr12:9135651-9135652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79924974	chr12:9135714-9135715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74345855	chr12:9135717-9135718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184528810	chr12:9135795-9135796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138487807	chr12:9135851-9135852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190607831	chr12:9135881-9135882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144031060	chr12:9135942-9135943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369105595	chr12:9135978-9135979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181954279	chr12:9135983-9135984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373611681	chr12:9135992-9135993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373373806	chr12:9136054-9136055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201839439	chr12:9136088-9136089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552454639	chr12:9136133-9136134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138007551	chr12:9136185-9136186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147944394	chr12:9136186-9136187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2110191	chr12:9136263-9136264	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs76543966	chr12:9136283-9136284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2110192	chr12:9136351-9136352	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs143879136	chr12:9136411-9136412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367849246	chr12:9136425-9136426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35246321	chr12:9136483-9136484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1121401	chr12:9136622-9136623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs184937813	chr12:9136645-9136646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368178786	chr12:9136657-9136658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188971491	chr12:9136706-9136707	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
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9133200-9139800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:9133600-9138200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:9133600-9140600	Weak transcription	Spleen	Spleen
4	chr12:9133800-9139000	Weak transcription	Primary T cells from cord blood	blood
5	chr12:9133800-9164600	Weak transcription	Psoas Muscle	Psoas
6	chr12:9133800-9170200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:9135000-9138400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:9135800-9141800	Weak transcription	Primary B cells from cord blood	blood
9	chr12:9136200-9136400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr12:9136400-9137600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links