Variant report

Variant	nsv961793
Chromosome Location	chr2:73393304-73398753
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73390881..73393497-chr2:73402051..73404149,2	MCF-7	breast:

Extended variants
information (count: 176 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551525713	chr2:73393332-73393333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566527570	chr2:73393334-73393335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527614400	chr2:73393373-73393374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548854067	chr2:73393426-73393427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566968284	chr2:73393427-73393428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs3866157	chr2:73393437-73393438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537399932	chr2:73393465-73393466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555846482	chr2:73393476-73393477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368463767	chr2:73393486-73393487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571284992	chr2:73393487-73393488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530436020	chr2:73393493-73393494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538335566	chr2:73393507-73393508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554382661	chr2:73393564-73393565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143273790	chr2:73393670-73393671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536995310	chr2:73393700-73393701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150954026	chr2:73393809-73393810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146492997	chr2:73393829-73393830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543805098	chr2:73393839-73393840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565257535	chr2:73393847-73393848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577295077	chr2:73394009-73394010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541150485	chr2:73394024-73394025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560334918	chr2:73394091-73394092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527480014	chr2:73394093-73394094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534446433	chr2:73394149-73394150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs62151840	chr2:73394166-73394167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548866213	chr2:73394204-73394205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560807129	chr2:73394213-73394214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531219654	chr2:73394229-73394230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549719839	chr2:73394247-73394248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370508085	chr2:73394279-73394280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571142718	chr2:73394281-73394282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148423787	chr2:73394390-73394391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs3887927	chr2:73394451-73394452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146441149	chr2:73394460-73394461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375760560	chr2:73394535-73394536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs3980780	chr2:73394554-73394555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2005200	chr2:73394620-73394621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538905872	chr2:73394652-73394653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3980781	chr2:73394701-73394702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368646105	chr2:73394714-73394715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2421406	chr2:73394744-73394745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547174258	chr2:73394745-73394746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138676098	chr2:73394769-73394770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536803044	chr2:73394778-73394779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368299077	chr2:73394800-73394801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576782574	chr2:73394834-73394835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537717713	chr2:73394886-73394887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62151842	chr2:73394920-73394921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138654299	chr2:73395094-73395095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558943744	chr2:73395117-73395118	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
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73384000-73402600	Weak transcription	Right Atrium	heart
2	chr2:73393000-73394600	Enhancers	HUVEC	blood vessel
3	chr2:73396800-73397000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:73397600-73397800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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