Variant report

Variant	nsv978937
Chromosome Location	chr2:99590098-99612582
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544168518	chr2:99604852-99604853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563281690	chr2:99604880-99604881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529131701	chr2:99604927-99604928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139147055	chr2:99604934-99604935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367915106	chr2:99604935-99604936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373258392	chr2:99604970-99604971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542506940	chr2:99604983-99604984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559491647	chr2:99605005-99605006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371728309	chr2:99605022-99605023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562670494	chr2:99605118-99605119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551460272	chr2:99605124-99605125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571337811	chr2:99605136-99605137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530554583	chr2:99605137-99605138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75094534	chr2:99605151-99605152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376278663	chr2:99605170-99605171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77531336	chr2:99605178-99605179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550574136	chr2:99605193-99605194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78523576	chr2:99605205-99605206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370316425	chr2:99605216-99605217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78104052	chr2:99605219-99605220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13422604	chr2:99605230-99605231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs553348453	chr2:99605233-99605234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192512628	chr2:99605238-99605239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116896058	chr2:99605252-99605253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559770060	chr2:99605259-99605260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575321899	chr2:99605262-99605263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570790471	chr2:99605272-99605273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71435100	chr2:99605288-99605289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544229510	chr2:99605289-99605290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527381407	chr2:99605292-99605293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573640975	chr2:99605293-99605294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375678360	chr2:99605297-99605298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368279727	chr2:99605298-99605299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559340344	chr2:99605306-99605307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370552655	chr2:99605309-99605310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544842928	chr2:99605310-99605311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565000414	chr2:99605314-99605315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530618432	chr2:99605345-99605346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550635951	chr2:99605366-99605367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567279731	chr2:99605392-99605393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7601614	chr2:99605399-99605400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547290364	chr2:99605400-99605401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567016710	chr2:99605430-99605431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539258133	chr2:99605446-99605447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558707464	chr2:99605449-99605450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569057933	chr2:99605473-99605474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537942238	chr2:99605474-99605475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554603320	chr2:99605485-99605486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184696212	chr2:99605497-99605498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540237079	chr2:99605518-99605519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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	17483303	CNVD
Medulloblastoma	20607354	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
Ovarian cancer	21781307	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99604800-99607000	Weak transcription	Right Atrium	heart
2	chr2:99611400-99611600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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