Variant report

Variant	esv3382719
Chromosome Location	chr12:44385065-44385562
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368211624	chr12:44385090-44385091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546827756	chr12:44385122-44385123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114094563	chr12:44385136-44385137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372265132	chr12:44385137-44385138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534675822	chr12:44385140-44385141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188948818	chr12:44385141-44385142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193204239	chr12:44385160-44385161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185340439	chr12:44385163-44385164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549329707	chr12:44385164-44385165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188886628	chr12:44385182-44385183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149726300	chr12:44385213-44385214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373640673	chr12:44385240-44385241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371753115	chr12:44385241-44385242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs398116392	chr12:44385248-44385249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145576316	chr12:44385258-44385259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146942926	chr12:44385269-44385270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs58794606	chr12:44385271-44385272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375552729	chr12:44385294-44385295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538765130	chr12:44385297-44385298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556761752	chr12:44385324-44385325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565992930	chr12:44385337-44385338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73085785	chr12:44385352-44385353	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs141297763	chr12:44385435-44385436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147011774	chr12:44385460-44385461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74345559	chr12:44385467-44385468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575657402	chr12:44385512-44385513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181295026	chr12:44385513-44385514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562843291	chr12:44385529-44385530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535043703	chr12:44385543-44385544	Weak transcription	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
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44361400-44401400	Weak transcription	Aorta	Aorta
2	chr12:44364600-44393200	Weak transcription	Small Intestine	intestine
3	chr12:44377400-44386200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:44381000-44385200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:44383200-44402400	Weak transcription	HSMMtube	muscle
6	chr12:44383600-44386200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:44383600-44386400	Weak transcription	NHEK	skin
8	chr12:44383600-44394000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:44384400-44399600	Weak transcription	Fetal Intestine Small	intestine
10	chr12:44385200-44385600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links