Variant report

Variant	nsv973635
Chromosome Location	chr9:44113586-44114968
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574133849	chr9:44113662-44113663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538333698	chr9:44113664-44113665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556423520	chr9:44113765-44113766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575379209	chr9:44113823-44113824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368589685	chr9:44113832-44113833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545706571	chr9:44113865-44113866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372205678	chr9:44113883-44113884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199788070	chr9:44113916-44113917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564012474	chr9:44113980-44113981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572818182	chr9:44114005-44114006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200912160	chr9:44114022-44114023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539802874	chr9:44114046-44114047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561351186	chr9:44114127-44114128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181609706	chr9:44114128-44114129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550644007	chr9:44114139-44114140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75523737	chr9:44114158-44114159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs55670880	chr9:44114179-44114180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533550880	chr9:44114229-44114230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552017417	chr9:44114296-44114297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567127724	chr9:44114317-44114318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527990883	chr9:44114355-44114356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs28401643	chr9:44114365-44114366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567654239	chr9:44114412-44114413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs202190703	chr9:44114434-44114435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556597145	chr9:44114443-44114444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571670627	chr9:44114489-44114490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs60986013	chr9:44114497-44114498	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs557542755	chr9:44114511-44114512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572754884	chr9:44114527-44114528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540135707	chr9:44114542-44114543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555286075	chr9:44114543-44114544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573568250	chr9:44114550-44114551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543897054	chr9:44114565-44114566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs28691242	chr9:44114575-44114576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532894034	chr9:44114581-44114582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545568668	chr9:44114582-44114583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201094522	chr9:44114593-44114594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201923175	chr9:44114594-44114595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527928766	chr9:44114614-44114615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200324785	chr9:44114618-44114619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531086442	chr9:44114649-44114650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549682654	chr9:44114650-44114651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs28418601	chr9:44114659-44114660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs28453972	chr9:44114697-44114698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549923863	chr9:44114723-44114724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143593221	chr9:44114761-44114762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538759995	chr9:44114780-44114781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563260067	chr9:44114785-44114786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187414397	chr9:44114791-44114792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192258384	chr9:44114818-44114819	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Lung adenocarcinoma	17086460	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Lung cancer	17086460	CNVD
Rhabdomyosarcoma	16790082	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:44113000-44114000	Weak transcription	Liver	Liver
2	chr9:44114000-44115000	Enhancers	Liver	Liver

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