Variant report

Variant	nsv961673
Chromosome Location	chr2:77411743-77418339
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 253 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192861133	chr2:77412202-77412203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541460601	chr2:77412236-77412237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183804753	chr2:77412239-77412240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576313122	chr2:77412251-77412252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188442183	chr2:77412255-77412256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565160720	chr2:77412262-77412263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369143759	chr2:77412265-77412266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548696346	chr2:77412275-77412276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7558042	chr2:77412302-77412303	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs559587564	chr2:77412307-77412308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7572144	chr2:77412369-77412370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530136225	chr2:77412383-77412384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548586990	chr2:77412482-77412483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527731132	chr2:77412486-77412487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150028480	chr2:77412494-77412495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552451377	chr2:77412509-77412510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17013771	chr2:77412514-77412515	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs534511468	chr2:77412518-77412519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546723124	chr2:77412553-77412554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568044335	chr2:77412564-77412565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535114259	chr2:77412575-77412576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556554628	chr2:77412581-77412582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76167775	chr2:77412625-77412626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537352281	chr2:77412721-77412722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558975889	chr2:77412724-77412725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538150359	chr2:77412752-77412753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577412167	chr2:77412811-77412812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72913923	chr2:77412829-77412830	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs17013773	chr2:77412859-77412860	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs574849395	chr2:77412862-77412863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs193227388	chr2:77412882-77412883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575572405	chr2:77412934-77412935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568351223	chr2:77412935-77412936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576728357	chr2:77412982-77412983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145324177	chr2:77413001-77413002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552547065	chr2:77413015-77413016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10176578	chr2:77413035-77413036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs76225286	chr2:77413042-77413043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184729905	chr2:77413068-77413069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10191311	chr2:77413071-77413072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs535196379	chr2:77413102-77413103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188002956	chr2:77413108-77413109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113362510	chr2:77413149-77413150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539042134	chr2:77413194-77413195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559229703	chr2:77413195-77413196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577451094	chr2:77413249-77413250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34572218	chr2:77413297-77413298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572743309	chr2:77413321-77413322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191456363	chr2:77413347-77413348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575036632	chr2:77413349-77413350	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77412200-77413000	Enhancers	HepG2	liver
2	chr2:77413000-77415200	Weak transcription	HepG2	liver
3	chr2:77415200-77415800	Enhancers	HepG2	liver
4	chr2:77415800-77417600	Weak transcription	HepG2	liver
5	chr2:77417600-77418000	Enhancers	HepG2	liver
6	chr2:77417800-77419200	Enhancers	Liver	Liver
7	chr2:77418000-77418600	Flanking Active TSS	HepG2	liver

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