Variant report

Variant	esv3415709
Chromosome Location	chr2:72627644-72630642
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374357839	chr2:72627663-72627664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568816266	chr2:72627679-72627680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374635945	chr2:72627683-72627684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533083757	chr2:72627696-72627697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116029432	chr2:72627698-72627699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566368018	chr2:72627720-72627721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533745795	chr2:72627738-72627739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186629664	chr2:72627777-72627778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116355238	chr2:72627805-72627806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538303134	chr2:72627806-72627807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568029811	chr2:72627862-72627863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577968893	chr2:72627874-72627875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530751478	chr2:72627895-72627896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545754837	chr2:72627908-72627909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190004678	chr2:72627929-72627930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554513912	chr2:72627948-72627949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183361743	chr2:72627961-72627962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188008986	chr2:72628005-72628006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561495131	chr2:72628007-72628008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76653928	chr2:72628009-72628010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571697606	chr2:72628082-72628083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533966871	chr2:72628089-72628090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13396606	chr2:72628111-72628112	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs112174111	chr2:72628116-72628117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185146704	chr2:72628124-72628125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527554771	chr2:72628154-72628155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544062209	chr2:72628204-72628205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548920924	chr2:72628212-72628213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567432360	chr2:72628216-72628217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188474769	chr2:72628255-72628256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192826825	chr2:72628284-72628285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184027989	chr2:72628328-72628329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370393438	chr2:72628391-72628392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs137919383	chr2:72628508-72628509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188126293	chr2:72628523-72628524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554178824	chr2:72628527-72628528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572789234	chr2:72628533-72628534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554896192	chr2:72628534-72628535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567511618	chr2:72628539-72628540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577561198	chr2:72628540-72628541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367560561	chr2:72628587-72628588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544018997	chr2:72628603-72628604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562614399	chr2:72628610-72628611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532214114	chr2:72628614-72628615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577273127	chr2:72628623-72628624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544626965	chr2:72628624-72628625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180939435	chr2:72628641-72628642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184640286	chr2:72628643-72628644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13397146	chr2:72628645-72628646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13397148	chr2:72628653-72628654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72613800-72654000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:72619600-72640600	Weak transcription	Ovary	ovary
3	chr2:72628400-72648800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links