Variant report

Variant	esv3420808
Chromosome Location	chr9:1387052-1388300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs626242	chr9:1387059-1387060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553708691	chr9:1387095-1387096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567483374	chr9:1387105-1387106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532665054	chr9:1387112-1387113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536541447	chr9:1387120-1387121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188218494	chr9:1387140-1387141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144902277	chr9:1387145-1387146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545185746	chr9:1387166-1387167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147885104	chr9:1387186-1387187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs627024	chr9:1387193-1387194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541097553	chr9:1387231-1387232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547950069	chr9:1387246-1387247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs55816767	chr9:1387277-1387278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561322898	chr9:1387282-1387283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530371646	chr9:1387322-1387323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543708787	chr9:1387346-1387347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563597294	chr9:1387355-1387356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140453598	chr9:1387381-1387382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114760578	chr9:1387388-1387389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180742732	chr9:1387395-1387396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370005061	chr9:1387399-1387400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72688882	chr9:1387400-1387401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10961250	chr9:1387505-1387506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567253746	chr9:1387519-1387520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368220298	chr9:1387525-1387526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150395030	chr9:1387534-1387535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs33971724	chr9:1387541-1387542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34307790	chr9:1387559-1387560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs58472348	chr9:1387561-1387562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10961251	chr9:1387563-1387564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28637221	chr9:1387565-1387566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538861839	chr9:1387567-1387568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558700263	chr9:1387569-1387570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572485021	chr9:1387570-1387571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576763902	chr9:1387573-1387574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544234429	chr9:1387575-1387576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541509263	chr9:1387578-1387579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554718509	chr9:1387583-1387584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200249425	chr9:1387601-1387602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs33956138	chr9:1387602-1387603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147969144	chr9:1387611-1387612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397770939	chr9:1387612-1387613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574501085	chr9:1387626-1387627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376565008	chr9:1387629-1387630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28379008	chr9:1387631-1387632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111374794	chr9:1387633-1387634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34249991	chr9:1387643-1387644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs604553	chr9:1387660-1387661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186977414	chr9:1387661-1387662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138000544	chr9:1387662-1387663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	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
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
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
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Esophageal cancer	21851588	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1386200-1387800	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1387800-1388000	Enhancers	Adipose Nuclei	Adipose

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