Variant report

Variant	esv2761496
Chromosome Location	chr9:11535868-11538142
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367784011	chr9:11535878-11535879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563153140	chr9:11535884-11535885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73405412	chr9:11535909-11535910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs10959898	chr9:11535934-11535935	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs561802830	chr9:11535939-11535940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112614928	chr9:11535940-11535941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533975667	chr9:11535946-11535947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73644034	chr9:11536004-11536005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs73405413	chr9:11536019-11536020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs150516770	chr9:11536024-11536025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527830640	chr9:11536041-11536042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191458411	chr9:11536066-11536067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184117231	chr9:11536087-11536088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73644035	chr9:11536099-11536100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs189869668	chr9:11536103-11536104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527339144	chr9:11536131-11536132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547594146	chr9:11536192-11536193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140279049	chr9:11536216-11536217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536699716	chr9:11536241-11536242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533702081	chr9:11536289-11536290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181140321	chr9:11536297-11536298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570068349	chr9:11536324-11536325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74977318	chr9:11536328-11536329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549547994	chr9:11536362-11536363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75184836	chr9:11536370-11536371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535084335	chr9:11536405-11536406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554028212	chr9:11536444-11536445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10959899	chr9:11536445-11536446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs10959900	chr9:11536465-11536466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs187051006	chr9:11536562-11536563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534023335	chr9:11536578-11536579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576033431	chr9:11536597-11536598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541427082	chr9:11536604-11536605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554901565	chr9:11536660-11536661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17793834	chr9:11536677-11536678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs540696848	chr9:11536678-11536679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56113386	chr9:11536723-11536724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369260844	chr9:11536771-11536772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189181314	chr9:11536780-11536781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368425899	chr9:11536782-11536783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373476172	chr9:11536819-11536820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139665475	chr9:11536821-11536822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529547291	chr9:11536865-11536866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141046091	chr9:11536902-11536903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10959901	chr9:11536921-11536922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549410360	chr9:11536931-11536932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376126828	chr9:11536932-11536933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77646883	chr9:11536939-11536940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528621406	chr9:11536959-11536960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551888480	chr9:11536967-11536968	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11535000-11538200	Weak transcription	Fetal Brain Male	brain
2	chr9:11537800-11538800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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