Variant report

Variant	nsv1012020
Chromosome Location	chr2:76921092-76946538
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1714 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1714 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372986662	chr2:76921103-76921104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11682344	chr2:76921128-76921129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs370245197	chr2:76921140-76921141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11676499	chr2:76921152-76921153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs543879429	chr2:76921169-76921170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12998993	chr2:76921170-76921171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13025244	chr2:76921172-76921173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11676468	chr2:76921182-76921183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs145683612	chr2:76921191-76921192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140756463	chr2:76921193-76921194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35173434	chr2:76921194-76921195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11676538	chr2:76921195-76921196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577277692	chr2:76921197-76921198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34995442	chr2:76921216-76921217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75676952	chr2:76921217-76921218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541459381	chr2:76921239-76921240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11687558	chr2:76921252-76921253	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs530026791	chr2:76921306-76921307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548544679	chr2:76921308-76921309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563494554	chr2:76921314-76921315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75449118	chr2:76921322-76921323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552233406	chr2:76921323-76921324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188533489	chr2:76921334-76921335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534220635	chr2:76921337-76921338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1879218	chr2:76921350-76921351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs368693863	chr2:76921363-76921364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75997792	chr2:76921364-76921365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565989756	chr2:76921367-76921368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536547748	chr2:76921385-76921386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1879217	chr2:76921390-76921391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs576566834	chr2:76921411-76921412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181341414	chr2:76921416-76921417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560989715	chr2:76921418-76921419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1879216	chr2:76921434-76921435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs541397873	chr2:76921443-76921444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559774943	chr2:76921460-76921461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574932635	chr2:76921463-76921464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367630918	chr2:76921485-76921486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575429368	chr2:76921503-76921504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563468601	chr2:76921532-76921533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570693007	chr2:76921538-76921539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1879215	chr2:76921550-76921551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs552105981	chr2:76921561-76921562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564158787	chr2:76921641-76921642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17013038	chr2:76921664-76921665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs528131761	chr2:76921700-76921701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546327106	chr2:76921749-76921750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71245360	chr2:76921784-76921785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373203036	chr2:76921785-76921786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565185874	chr2:76921813-76921814	Weak transcription	n/a	n/a	Overlapped CNVs	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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