Variant report

Variant	nsv972260
Chromosome Location	chr9:12665352-12669979
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 210 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541270755	chr9:12665403-12665404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188257034	chr9:12665418-12665419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572428266	chr9:12665419-12665420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62542906	chr9:12665483-12665484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575457545	chr9:12665484-12665485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200832709	chr9:12665485-12665486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541438493	chr9:12665516-12665517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533488015	chr9:12665518-12665519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs36103441	chr9:12665530-12665531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2104339	chr9:12665542-12665543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs562974143	chr9:12665543-12665544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528867190	chr9:12665549-12665550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533480865	chr9:12665633-12665634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565641615	chr9:12665642-12665643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56241233	chr9:12665652-12665653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145910961	chr9:12665659-12665660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371560002	chr9:12665668-12665669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs398068469	chr9:12665670-12665671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200505283	chr9:12665671-12665672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10960745	chr9:12665673-12665674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112694317	chr9:12665674-12665675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554143671	chr9:12665676-12665677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577206171	chr9:12665683-12665684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532323726	chr9:12665684-12665685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546273348	chr9:12665687-12665688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146859479	chr9:12665688-12665689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571462912	chr9:12665693-12665694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71507325	chr9:12665707-12665708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543587817	chr9:12665714-12665715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557275578	chr9:12665744-12665745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563383330	chr9:12665775-12665776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185599841	chr9:12665776-12665777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535500021	chr9:12665778-12665779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370140666	chr9:12665783-12665784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75214938	chr9:12665806-12665807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541120215	chr9:12665809-12665810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145088515	chr9:12665818-12665819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577794948	chr9:12665846-12665847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548967706	chr9:12665871-12665872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543741407	chr9:12665880-12665881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563654617	chr9:12665884-12665885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529563438	chr9:12665922-12665923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190067487	chr9:12665943-12665944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181720578	chr9:12665972-12665973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138966745	chr9:12666031-12666032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541231577	chr9:12666032-12666033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571499705	chr9:12666049-12666050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530738405	chr9:12666080-12666081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10123110	chr9:12666092-12666093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs567448221	chr9:12666103-12666104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
abnormal development	18461090	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	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
Cancer	20164920	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
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21611746	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12659400-12666400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr9:12666200-12667000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr9:12666400-12667400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr9:12666400-12669400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:12667200-12667600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:12667200-12667600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:12669400-12671200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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