Variant report

Variant	nsv892273
Chromosome Location	chr9:9673320-9730366
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 357 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544935951	chr9:9679031-9679032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548264684	chr9:9679034-9679035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149517996	chr9:9679044-9679045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12686302	chr9:9679061-9679062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534104108	chr9:9679067-9679068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192638199	chr9:9679079-9679080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184432035	chr9:9679091-9679092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187766045	chr9:9679112-9679113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556273986	chr9:9679114-9679115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200056615	chr9:9679116-9679117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568634804	chr9:9679121-9679122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568044173	chr9:9679122-9679123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201905009	chr9:9679134-9679135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201356962	chr9:9679136-9679137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535470125	chr9:9679159-9679160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542803867	chr9:9679195-9679196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537505146	chr9:9679220-9679221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370470852	chr9:9679230-9679231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559691595	chr9:9679233-9679234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs199905693	chr9:9679240-9679241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192819422	chr9:9679274-9679275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571677581	chr9:9679282-9679283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184798059	chr9:9679287-9679288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190099519	chr9:9679302-9679303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547784062	chr9:9679357-9679358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540525975	chr9:9679382-9679383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181661540	chr9:9679406-9679407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs117194307	chr9:9679408-9679409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35826939	chr9:9679433-9679434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565599877	chr9:9679439-9679440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113742940	chr9:9679459-9679460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79803342	chr9:9679503-9679504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184632522	chr9:9679513-9679514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567810149	chr9:9679531-9679532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563312796	chr9:9679548-9679549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530488038	chr9:9679556-9679557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527645509	chr9:9679561-9679562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552546671	chr9:9679627-9679628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570759410	chr9:9679641-9679642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531566847	chr9:9679655-9679656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189439196	chr9:9679656-9679657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182092221	chr9:9679690-9679691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535217000	chr9:9679741-9679742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553780611	chr9:9679755-9679756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185905483	chr9:9679769-9679770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368896141	chr9:9679782-9679783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560997563	chr9:9679807-9679808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539034128	chr9:9679890-9679891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139646560	chr9:9679891-9679892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577098941	chr9:9679955-9679956	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	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
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	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
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
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Gastric cancer	22315472	CNVD
Chordoma	21215367	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9679000-9680200	Enhancers	Liver	Liver
2	chr9:9680200-9681200	Weak transcription	Liver	Liver
3	chr9:9681200-9681400	Enhancers	Liver	Liver
4	chr9:9714000-9714800	Enhancers	Fetal Kidney	kidney
5	chr9:9718200-9718400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr9:9718400-9719200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:9718600-9720000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:9719000-9719800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
9	chr9:9729200-9731200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr9:9730200-9730600	Enhancers	GM12878-XiMat	blood

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