Variant report

Variant	esv3437357
Chromosome Location	chr2:235025613-235026711
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HJURP-7	chr2:235026282-235028092	ucscGeneNc_uc002vvl_1

Extended variants
information (count: 95 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541006246	chr2:235025615-235025616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs60069251	chr2:235025636-235025637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs138193739	chr2:235025660-235025661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74418444	chr2:235025666-235025667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78280183	chr2:235025673-235025674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565979625	chr2:235025717-235025718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376761292	chr2:235025732-235025733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs80157023	chr2:235025753-235025754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557770138	chr2:235025802-235025803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557991163	chr2:235025823-235025824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77833009	chr2:235025832-235025833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77393842	chr2:235025833-235025834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79122245	chr2:235025834-235025835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577432545	chr2:235025838-235025839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577934765	chr2:235025880-235025881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537023879	chr2:235025898-235025899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149090516	chr2:235025903-235025904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28802676	chr2:235025910-235025911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200920058	chr2:235025928-235025929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192097314	chr2:235025935-235025936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562618610	chr2:235025944-235025945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546499933	chr2:235025949-235025950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28883722	chr2:235025957-235025958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575693361	chr2:235025958-235025959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7600303	chr2:235025963-235025964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs143118173	chr2:235025971-235025972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531796196	chr2:235025980-235025981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541243330	chr2:235025986-235025987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201924781	chr2:235025993-235025994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200350971	chr2:235025995-235025996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369830133	chr2:235025996-235025997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56155970	chr2:235025997-235025998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10637510	chr2:235025998-235025999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11883786	chr2:235026004-235026005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28444277	chr2:235026008-235026009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11883789	chr2:235026010-235026011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28372111	chr2:235026011-235026012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11885118	chr2:235026025-235026026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11903088	chr2:235026041-235026042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374089556	chr2:235026067-235026068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs58426914	chr2:235026082-235026083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56341769	chr2:235026083-235026084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11903096	chr2:235026084-235026085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11898989	chr2:235026085-235026086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549498001	chr2:235026086-235026087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61099243	chr2:235026087-235026088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs146330403	chr2:235026088-235026089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373140233	chr2:235026089-235026090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565450841	chr2:235026090-235026091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9749695	chr2:235026093-235026094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Wilms tumour	21544195	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:235025000-235040000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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