Variant report

Variant	nsv521550
Chromosome Location	chr9:7913952-7919153
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 192 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:192 , 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	rs2890768	chr9:7913952-7913953	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541798590	chr9:7914002-7914003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10815714	chr9:7914008-7914009	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs77795245	chr9:7914054-7914055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs80328420	chr9:7914056-7914057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115599570	chr9:7914061-7914062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564288788	chr9:7914075-7914076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531506659	chr9:7914076-7914077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550103744	chr9:7914135-7914136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146132483	chr9:7914175-7914176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185085602	chr9:7914178-7914179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs958011	chr9:7914185-7914186	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs566883099	chr9:7914211-7914212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116440730	chr9:7914259-7914260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115902517	chr9:7914266-7914267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577023129	chr9:7914277-7914278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79568807	chr9:7914278-7914279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140122811	chr9:7914299-7914300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72701817	chr9:7914308-7914309	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs541489159	chr9:7914316-7914317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76739022	chr9:7914331-7914332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369059875	chr9:7914333-7914334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571913553	chr9:7914338-7914339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545936189	chr9:7914377-7914378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143945799	chr9:7914398-7914399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115320321	chr9:7915802-7915803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182800885	chr9:7915811-7915812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148933144	chr9:7915815-7915816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369008877	chr9:7915823-7915824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527698050	chr9:7915824-7915825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1322465	chr9:7915863-7915864	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs570590513	chr9:7915877-7915878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114251147	chr9:7915890-7915891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75468717	chr9:7915891-7915892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570836263	chr9:7915896-7915897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13287774	chr9:7915899-7915900	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs553004086	chr9:7915901-7915902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143642204	chr9:7915916-7915917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs117458628	chr9:7915966-7915967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7854901	chr9:7916026-7916027	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs138196098	chr9:7916042-7916043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7854921	chr9:7916086-7916087	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs187125470	chr9:7916094-7916095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190046247	chr9:7916119-7916120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7851802	chr9:7916120-7916121	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs182110494	chr9:7916202-7916203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559841768	chr9:7916209-7916210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533604105	chr9:7916219-7916220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373181512	chr9:7916260-7916261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550801300	chr9:7916261-7916262	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
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
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7911400-7914200	Weak transcription	Fetal Thymus	thymus
2	chr9:7913000-7914200	Enhancers	Thymus	Thymus
3	chr9:7914200-7914400	Enhancers	Fetal Thymus	thymus
4	chr9:7915800-7917000	Enhancers	Fetal Intestine Large	intestine
5	chr9:7916200-7916800	Enhancers	Small Intestine	intestine
6	chr9:7916200-7917000	Enhancers	Fetal Intestine Small	intestine
7	chr9:7916800-7918000	Weak transcription	Small Intestine	intestine
8	chr9:7917200-7917400	Enhancers	Stomach Mucosa	stomach
9	chr9:7917600-7922200	Weak transcription	Stomach Mucosa	stomach
10	chr9:7918000-7918200	Enhancers	Small Intestine	intestine

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