Variant report

Variant	nsv874319
Chromosome Location	chr2:76949101-76979415
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1334 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1334 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10210863	chr2:76949101-76949102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574574519	chr2:76949104-76949105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535569149	chr2:76949117-76949118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556907215	chr2:76949132-76949133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11904489	chr2:76949136-76949137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549147448	chr2:76949139-76949140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545739066	chr2:76949163-76949164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560954544	chr2:76949173-76949174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573102263	chr2:76949175-76949176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540401472	chr2:76949222-76949223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191426464	chr2:76949230-76949231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76558568	chr2:76949271-76949272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550719364	chr2:76949296-76949297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562424830	chr2:76949298-76949299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183798182	chr2:76949300-76949301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7597663	chr2:76949315-76949316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs551134853	chr2:76949316-76949317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571269339	chr2:76949325-76949326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10679173	chr2:76949342-76949343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372841508	chr2:76949343-76949344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397957436	chr2:76949344-76949345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141339980	chr2:76949350-76949351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528814967	chr2:76949361-76949362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546755576	chr2:76949363-76949364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550824904	chr2:76949390-76949391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568336652	chr2:76949394-76949395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535508793	chr2:76949414-76949415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146973238	chr2:76949434-76949435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76005150	chr2:76949455-76949456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539817437	chr2:76949464-76949465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138106525	chr2:76949465-76949466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10593654	chr2:76949491-76949492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573077424	chr2:76949496-76949497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540175355	chr2:76949502-76949503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141493432	chr2:76949517-76949518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536570338	chr2:76949534-76949535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573886735	chr2:76949554-76949555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150423491	chr2:76949565-76949566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562564845	chr2:76949585-76949586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371430557	chr2:76949603-76949604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77761731	chr2:76949609-76949610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138156342	chr2:76949617-76949618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531282919	chr2:76949636-76949637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7598235	chr2:76949650-76949651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs570944082	chr2:76949652-76949653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528752828	chr2:76949654-76949655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188531548	chr2:76949693-76949694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568274169	chr2:76949700-76949701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192745278	chr2:76949707-76949708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529436425	chr2:76949709-76949710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76935200-76949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:76955600-76956000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:76955600-76956200	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr2:76955800-76956200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr2:76955800-76956200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr2:76956000-76957800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:76956200-76957400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:76956200-76957800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:76957400-76957600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:76957600-76958000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:76957800-76958400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:76957800-76958400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr2:76958000-76958600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:76958200-76958600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:76958400-76958600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:76958400-76960600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:76958600-76958800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:76958600-76960600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:76958800-76960400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:76960400-76960800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr2:76960600-76960800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr2:76960600-76960800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:76960600-76961000	Enhancers	Fetal Lung	lung
24	chr2:76960600-76961200	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr2:76960600-76961600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:76960800-76961600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr2:76960800-76961600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr2:76960800-76963000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr2:76960800-76974600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:76961200-76963200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:76961600-76961800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr2:76961600-76963200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:76961600-76967200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:76961800-76964600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr2:76963000-76963600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr2:76963200-76963600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr2:76963200-76963800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr2:76963800-76985800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr2:76967200-76967400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr2:76967600-76968000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr2:76973400-76989200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr2:76974600-76974800	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:76974800-76986600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:76976800-76977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:76976800-76977400	Enhancers	Dnd41	blood
46	chr2:76977000-76977600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr2:76977200-76977400	Enhancers	H9 Cell Line	embryonic stem cell
48	chr2:76977600-76981800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr2:76978600-76979400	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr2:76979400-76988200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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