Variant report

Variant	esv3519672
Chromosome Location	chr12:40898422-40907859
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:40902352..40904327-chr12:40904757..40907254,2	K562	blood:
2	chr12:40882994..40885029-chr12:40904694..40907438,2	K562	blood:
3	chr12:40902352..40904327-chr12:40904757..40907254,2	K562	blood:

Extended variants
information (count: 567 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:567 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570909601	chr12:40898440-40898441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527810916	chr12:40898445-40898446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545952118	chr12:40898501-40898502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34666746	chr12:40898531-40898532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374830851	chr12:40898546-40898547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564518242	chr12:40898566-40898567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11613308	chr12:40898573-40898574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575398198	chr12:40898586-40898587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549763452	chr12:40898603-40898604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568456999	chr12:40898686-40898687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184149277	chr12:40898707-40898708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112309579	chr12:40898708-40898709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386762386	chr12:40898715-40898716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386762387	chr12:40898721-40898722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148047945	chr12:40898724-40898725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369645493	chr12:40898728-40898729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1826383	chr12:40898745-40898746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs1899840	chr12:40898748-40898749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73267900	chr12:40898764-40898765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140888322	chr12:40898781-40898782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74695643	chr12:40898784-40898785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1388783	chr12:40898794-40898795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs113126556	chr12:40898816-40898817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77297178	chr12:40898840-40898841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77558194	chr12:40898841-40898842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77468788	chr12:40898844-40898845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75287941	chr12:40898845-40898846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74725588	chr12:40898848-40898849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs386762388	chr12:40898858-40898859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75704750	chr12:40898859-40898860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73110066	chr12:40898861-40898862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2920831	chr12:40898862-40898863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556185928	chr12:40898863-40898864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75853992	chr12:40898868-40898869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75380967	chr12:40898873-40898874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79690310	chr12:40898875-40898876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76249793	chr12:40898885-40898886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574820043	chr12:40898889-40898890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73269903	chr12:40898924-40898925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76065392	chr12:40898936-40898937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75916286	chr12:40898947-40898948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76468484	chr12:40898951-40898952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs386762389	chr12:40898954-40898955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375422681	chr12:40898955-40898956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188783605	chr12:40898980-40898981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79419553	chr12:40898981-40898982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs180802853	chr12:40898984-40898985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77756482	chr12:40898990-40898991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572110302	chr12:40898997-40898998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs80216984	chr12:40899006-40899007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Cancer	20164919	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
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40894800-40908600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:40898800-40899200	Enhancers	Lung	lung
3	chr12:40898800-40899200	Enhancers	GM12878-XiMat	blood
4	chr12:40899000-40900000	Enhancers	Dnd41	blood
5	chr12:40899200-40904600	Weak transcription	GM12878-XiMat	blood
6	chr12:40902000-40902200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:40902200-40903000	Enhancers	Fetal Lung	lung
8	chr12:40904600-40905800	Enhancers	GM12878-XiMat	blood
9	chr12:40905800-40908000	Weak transcription	GM12878-XiMat	blood
10	chr12:40906800-40908000	Weak transcription	HMEC	breast
11	chr12:40907800-40908400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood

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