Variant report

Variant	nsv829472
Chromosome Location	chr2:78689640-78693967
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 158 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:158 , 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	rs115688441	chr2:78689777-78689778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544632864	chr2:78689780-78689781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557030827	chr2:78689791-78689792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564696052	chr2:78689807-78689808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527599059	chr2:78689814-78689815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs80288269	chr2:78689815-78689816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561137861	chr2:78689861-78689862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183829740	chr2:78689937-78689938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549989652	chr2:78689986-78689987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570200727	chr2:78689988-78689989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148369811	chr2:78690054-78690055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141536617	chr2:78690062-78690063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565902948	chr2:78690066-78690067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535337287	chr2:78690128-78690129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554918648	chr2:78690141-78690142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140807572	chr2:78690153-78690154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147506407	chr2:78690282-78690283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375893293	chr2:78690327-78690328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7592399	chr2:78690335-78690336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs549777578	chr2:78690339-78690340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75853869	chr2:78690353-78690354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7604707	chr2:78690368-78690369	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs138056978	chr2:78690434-78690435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143525489	chr2:78690443-78690444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188946827	chr2:78690448-78690449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528432671	chr2:78690460-78690461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79416499	chr2:78690505-78690506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181439058	chr2:78690576-78690577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147154578	chr2:78690617-78690618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550030894	chr2:78690639-78690640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563446465	chr2:78690640-78690641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532670621	chr2:78690643-78690644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552349229	chr2:78690661-78690662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566070298	chr2:78690705-78690706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs80294782	chr2:78690735-78690736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139468889	chr2:78690744-78690745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568442461	chr2:78690783-78690784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13427717	chr2:78690799-78690800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs187465225	chr2:78690892-78690893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190510890	chr2:78690957-78690958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149656923	chr2:78691040-78691041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558413695	chr2:78691053-78691054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572095499	chr2:78691065-78691066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10209274	chr2:78691068-78691069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs554585770	chr2:78691069-78691070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574810221	chr2:78691085-78691086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13391526	chr2:78691088-78691089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs144631317	chr2:78691110-78691111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182286530	chr2:78691124-78691125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186131547	chr2:78691139-78691140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78683400-78742200	Weak transcription	HepG2	liver

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