Variant report

Variant	esv3355463
Chromosome Location	chr12:44261635-44262683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530407651	chr12:44261645-44261646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540390588	chr12:44261723-44261724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148566364	chr12:44261761-44261762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34593902	chr12:44261765-44261766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564429056	chr12:44261766-44261767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545537208	chr12:44261767-44261768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561487044	chr12:44261780-44261781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375651167	chr12:44261797-44261798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200858290	chr12:44261908-44261909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs67114441	chr12:44261909-44261910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs59858298	chr12:44261911-44261912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201538933	chr12:44261912-44261913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7133336	chr12:44261915-44261916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs372810940	chr12:44261916-44261917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182520687	chr12:44261920-44261921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186673154	chr12:44261933-44261934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2699991	chr12:44261945-44261946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202208303	chr12:44261946-44261947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77685975	chr12:44261955-44261956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71435965	chr12:44261979-44261980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368919015	chr12:44261981-44261982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551129199	chr12:44261993-44261994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550874129	chr12:44261994-44261995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539268191	chr12:44262005-44262006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570948318	chr12:44262130-44262131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144368961	chr12:44262159-44262160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183332899	chr12:44262160-44262161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540107392	chr12:44262182-44262183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200314456	chr12:44262199-44262200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116967754	chr12:44262202-44262203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535824054	chr12:44262254-44262255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559011400	chr12:44262277-44262278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146156586	chr12:44262286-44262287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1731445	chr12:44262298-44262299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540059033	chr12:44262307-44262308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566664453	chr12:44262349-44262350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201398101	chr12:44262392-44262393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188949963	chr12:44262448-44262449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs80080005	chr12:44262487-44262488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1731443	chr12:44262515-44262516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs2447116	chr12:44262529-44262530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs1731442	chr12:44262606-44262607	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs372530535	chr12:44262660-44262661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44240400-44293000	Weak transcription	Aorta	Aorta
2	chr12:44256400-44285600	Weak transcription	HSMMtube	muscle
3	chr12:44256600-44263000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:44256600-44263000	Weak transcription	NHEK	skin
5	chr12:44256800-44263200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:44258200-44273600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:44259200-44263000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:44261600-44261800	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr12:44262600-44263400	Enhancers	A549	lung
10	chr12:44262600-44263600	Enhancers	Hela-S3	cervix

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