Variant report

Variant	nsv1001059
Chromosome Location	chr2:76921664-76949552
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1868 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1868 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17013038	chr2:76921664-76921665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528131761	chr2:76921700-76921701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546327106	chr2:76921749-76921750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71245360	chr2:76921784-76921785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373203036	chr2:76921785-76921786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565185874	chr2:76921813-76921814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532176479	chr2:76921824-76921825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550767782	chr2:76921835-76921836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79628793	chr2:76921843-76921844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576062622	chr2:76921921-76921922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570277488	chr2:76921922-76921923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535559936	chr2:76921957-76921958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34360299	chr2:76922005-76922006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562376478	chr2:76922020-76922021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537606071	chr2:76922056-76922057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185798430	chr2:76922062-76922063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149689654	chr2:76922069-76922070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535120618	chr2:76922108-76922109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114091323	chr2:76922129-76922130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191764264	chr2:76922161-76922162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575089209	chr2:76922167-76922168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541873222	chr2:76922171-76922172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75349168	chr2:76922175-76922176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575450228	chr2:76922311-76922312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145483783	chr2:76922330-76922331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563928211	chr2:76922377-76922378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181878804	chr2:76922406-76922407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539926623	chr2:76922416-76922417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372294423	chr2:76922426-76922427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187375044	chr2:76922433-76922434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550310069	chr2:76922445-76922446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373582530	chr2:76922524-76922525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531104085	chr2:76922572-76922573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13006918	chr2:76922585-76922586	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs115893424	chr2:76922590-76922591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535265030	chr2:76922607-76922608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553469222	chr2:76922642-76922643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542424752	chr2:76922644-76922645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141100366	chr2:76922683-76922684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79534942	chr2:76922688-76922689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563800513	chr2:76922693-76922694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557084131	chr2:76922713-76922714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191971158	chr2:76922723-76922724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369980604	chr2:76922738-76922739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545774063	chr2:76922768-76922769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557667436	chr2:76922790-76922791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572669043	chr2:76922803-76922804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182068669	chr2:76922832-76922833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186712758	chr2:76922857-76922858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs55650661	chr2:76922859-76922860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76906000-76926600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:76916000-76927800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:76918600-76927600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:76922000-76922600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:76925600-76925800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:76926600-76926800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr2:76927800-76928400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:76928000-76928400	Enhancers	Fetal Heart	heart
9	chr2:76928400-76934800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:76934800-76935200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr2:76934800-76936000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr2:76935200-76949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:76936000-76938600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:76937000-76937200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:76938400-76939000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:76938400-76939400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:76938600-76939000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:76938600-76939200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:76939000-76947800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:76944000-76944200	Enhancers	Pancreatic Islets	Pancreatic Islet

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