Variant report

Variant	esv3482978
Chromosome Location	chr9:12645637-12649233
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 148 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560637753	chr9:12645652-12645653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577635646	chr9:12645730-12645731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546474483	chr9:12645773-12645774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185116058	chr9:12645799-12645800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531198981	chr9:12645820-12645821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148926175	chr9:12645852-12645853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561606288	chr9:12645853-12645854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190360654	chr9:12645857-12645858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547204243	chr9:12645865-12645866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34736948	chr9:12645916-12645917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78548630	chr9:12645937-12645938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533059193	chr9:12645958-12645959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376673211	chr9:12645978-12645979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572049981	chr9:12645984-12645985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549622130	chr9:12646056-12646057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370993944	chr9:12646075-12646076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs80277849	chr9:12646106-12646107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10114988	chr9:12646110-12646111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs192617955	chr9:12646112-12646113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568479570	chr9:12646115-12646116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184954881	chr9:12646148-12646149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376416685	chr9:12646164-12646165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143674358	chr9:12646181-12646182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557790456	chr9:12646213-12646214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151057142	chr9:12646235-12646236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546560580	chr9:12646252-12646253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140999138	chr9:12646304-12646305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577342816	chr9:12646316-12646317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199774768	chr9:12646319-12646320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4741241	chr9:12646325-12646326	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs576016804	chr9:12646342-12646343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75238053	chr9:12646352-12646353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561689765	chr9:12646379-12646380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576306985	chr9:12646433-12646434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187992590	chr9:12646452-12646453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560545098	chr9:12646541-12646542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375292020	chr9:12646542-12646543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs180857832	chr9:12646572-12646573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112931132	chr9:12646578-12646579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563946511	chr9:12646623-12646624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370175350	chr9:12646640-12646641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532949426	chr9:12646646-12646647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542165229	chr9:12646689-12646690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144734903	chr9:12646695-12646696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372472547	chr9:12646711-12646712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200826861	chr9:12646712-12646713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112946844	chr9:12646734-12646735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373591351	chr9:12646783-12646784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529154202	chr9:12646788-12646789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548315461	chr9:12646798-12646799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12644000-12651000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:12648400-12649400	Enhancers	Pancreatic Islets	Pancreatic Islet

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