Variant report

Variant	esv3345867
Chromosome Location	chr9:9946602-9948650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 152 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:152 , 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	rs148909516	chr9:9946639-9946640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376812690	chr9:9946641-9946642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189134833	chr9:9946652-9946653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557436319	chr9:9946659-9946660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575525416	chr9:9946669-9946670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531867342	chr9:9946688-9946689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181027670	chr9:9946737-9946738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539529500	chr9:9946741-9946742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186043653	chr9:9946756-9946757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189973177	chr9:9946757-9946758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149021743	chr9:9946763-9946764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143804109	chr9:9946781-9946782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555970453	chr9:9946786-9946787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147249089	chr9:9946789-9946790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541739054	chr9:9946811-9946812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553473959	chr9:9946821-9946822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12554017	chr9:9946835-9946836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs182565490	chr9:9946842-9946843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79476648	chr9:9946850-9946851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528508164	chr9:9946855-9946856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542035957	chr9:9946860-9946861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534142938	chr9:9946867-9946868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561962884	chr9:9946882-9946883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371110554	chr9:9946910-9946911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185686355	chr9:9946911-9946912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190692757	chr9:9946920-9946921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114761602	chr9:9946932-9946933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183836304	chr9:9946964-9946965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549774247	chr9:9946972-9946973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189205636	chr9:9946993-9946994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535603330	chr9:9947003-9947004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192242645	chr9:9947072-9947073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566297783	chr9:9947109-9947110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534922924	chr9:9947117-9947118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76851746	chr9:9947118-9947119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375853017	chr9:9947121-9947122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539399214	chr9:9947129-9947130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556234684	chr9:9947143-9947144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73402690	chr9:9947146-9947147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs548557202	chr9:9947156-9947157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369037971	chr9:9947165-9947166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561715714	chr9:9947172-9947173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572168394	chr9:9947187-9947188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570191908	chr9:9947204-9947205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10759113	chr9:9947239-9947240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs564000397	chr9:9947253-9947254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374679006	chr9:9947268-9947269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139304398	chr9:9947288-9947289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10759114	chr9:9947305-9947306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs375419953	chr9:9947309-9947310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Breast cancer	21611746	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9943600-9949600	Weak transcription	Fetal Heart	heart
2	chr9:9946400-9946800	Enhancers	Fetal Brain Male	brain

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