Variant report

Variant	esv3335955
Chromosome Location	chr12:46711785-46713783
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116013877	chr12:46711815-46711816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558341226	chr12:46711873-46711874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570626071	chr12:46711901-46711902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539665959	chr12:46711903-46711904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138658890	chr12:46711912-46711913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569884560	chr12:46711969-46711970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535831337	chr12:46711989-46711990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142700925	chr12:46712001-46712002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143583408	chr12:46712091-46712092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534756855	chr12:46712122-46712123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12423982	chr12:46712123-46712124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148065211	chr12:46712128-46712129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12820274	chr12:46712154-46712155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577790509	chr12:46712156-46712157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370992457	chr12:46712178-46712179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59919892	chr12:46712230-46712231	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs557619397	chr12:46712235-46712236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187408926	chr12:46712273-46712274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375463871	chr12:46712275-46712276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574841781	chr12:46712282-46712283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112559642	chr12:46712434-46712435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192056870	chr12:46712480-46712481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201535681	chr12:46712500-46712501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76369600	chr12:46712505-46712506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72153917	chr12:46712515-46712516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577017400	chr12:46712516-46712517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74692765	chr12:46712519-46712520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544710740	chr12:46712535-46712536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373934067	chr12:46712545-46712546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183189448	chr12:46712546-46712547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546944407	chr12:46712562-46712563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12826186	chr12:46712572-46712573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12821067	chr12:46712573-46712574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187850141	chr12:46712590-46712591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71067989	chr12:46712601-46712602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184287321	chr12:46712622-46712623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71445723	chr12:46712630-46712631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189238108	chr12:46712651-46712652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560354694	chr12:46712657-46712658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12821240	chr12:46712658-46712659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200493221	chr12:46712663-46712664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71445724	chr12:46712664-46712665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558234366	chr12:46712688-46712689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71067990	chr12:46712720-46712721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11183436	chr12:46712721-46712722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11183437	chr12:46712722-46712723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192858643	chr12:46712737-46712738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184659335	chr12:46712750-46712751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs5016478	chr12:46712751-46712752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113143433	chr12:46712752-46712753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21542898	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46707600-46711800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:46708800-46711800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:46708800-46736200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:46711800-46712000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr12:46711800-46712000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:46711800-46712200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr12:46711800-46712200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:46711800-46713200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:46711800-46713800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:46711800-46715200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:46711800-46715200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:46712000-46712600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:46712000-46713000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:46712200-46714000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:46712200-46714600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:46712600-46713600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr12:46712800-46713200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr12:46712800-46713800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr12:46713000-46713200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr12:46713200-46713600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:46713200-46714400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:46713400-46714600	Enhancers	HUVEC	blood vessel
23	chr12:46713600-46714200	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr12:46713600-46714200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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