Variant report

Variant	nsv963170
Chromosome Location	chr2:114802709-114803814
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546719847	chr2:114802722-114802723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566530366	chr2:114802723-114802724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535659879	chr2:114802762-114802763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549168574	chr2:114802777-114802778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569200575	chr2:114802840-114802841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537742788	chr2:114802917-114802918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557374446	chr2:114802952-114802953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577173851	chr2:114802969-114802970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185625176	chr2:114802983-114802984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190544210	chr2:114802985-114802986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202181036	chr2:114803003-114803004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373610861	chr2:114803004-114803005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200074904	chr2:114803006-114803007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs397710941	chr2:114803009-114803010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572975421	chr2:114803026-114803027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542047279	chr2:114803037-114803038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191265885	chr2:114803045-114803046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183489666	chr2:114803062-114803063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544729132	chr2:114803063-114803064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544574389	chr2:114803064-114803065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564753315	chr2:114803074-114803075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369953543	chr2:114803075-114803076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546583118	chr2:114803373-114803374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560308961	chr2:114803383-114803384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1843304	chr2:114803384-114803385	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs372524579	chr2:114803423-114803424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10469814	chr2:114803479-114803480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188222310	chr2:114803485-114803486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140954690	chr2:114803504-114803505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150213310	chr2:114803526-114803527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571486355	chr2:114803533-114803534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539470799	chr2:114803557-114803558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552927227	chr2:114803575-114803576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374934348	chr2:114803653-114803654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573035761	chr2:114803731-114803732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370187605	chr2:114803753-114803754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181094765	chr2:114803792-114803793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
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
Autism	22495311	CNVD
Autism	18522746	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114799200-114804000	Weak transcription	Fetal Brain Male	brain

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