Variant report

Variant	esv1805978
Chromosome Location	chr9:17910066-17922697
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537266216	chr9:17920216-17920217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183029766	chr9:17920234-17920235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571066752	chr9:17920240-17920241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535323786	chr9:17920272-17920273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553048567	chr9:17920274-17920275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574461021	chr9:17920318-17920319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535578507	chr9:17920319-17920320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187712051	chr9:17920351-17920352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575270816	chr9:17920353-17920354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548773154	chr9:17920368-17920369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545681937	chr9:17920437-17920438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564267278	chr9:17920455-17920456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192628491	chr9:17920466-17920467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572842856	chr9:17920498-17920499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540133674	chr9:17920510-17920511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559350147	chr9:17920571-17920572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530024404	chr9:17920572-17920573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548146596	chr9:17920575-17920576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13301593	chr9:17920596-17920597	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs113516425	chr9:17920634-17920635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10810874	chr9:17920659-17920660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7848357	chr9:17920746-17920747	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs184784792	chr9:17920756-17920757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547295814	chr9:17920770-17920771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568736255	chr9:17920774-17920775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535464539	chr9:17920788-17920789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188023316	chr9:17920796-17920797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372012688	chr9:17920840-17920841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559537656	chr9:17920841-17920842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575252253	chr9:17920861-17920862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539512121	chr9:17920889-17920890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557715198	chr9:17920898-17920899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10963340	chr9:17920899-17920900	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs143644002	chr9:17920973-17920974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555259900	chr9:17920981-17920982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146819368	chr9:17920984-17920985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541862927	chr9:17920990-17920991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563689628	chr9:17921007-17921008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368728365	chr9:17921016-17921017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192350848	chr9:17921043-17921044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564556644	chr9:17921044-17921045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528712109	chr9:17921080-17921081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369141827	chr9:17921098-17921099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112133958	chr9:17921125-17921126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547187369	chr9:17921127-17921128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184688172	chr9:17921130-17921131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529570569	chr9:17921146-17921147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550346937	chr9:17921169-17921170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139506271	chr9:17921212-17921213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539187232	chr9:17921216-17921217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
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
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	21364760	CNVD
Cancer	22183965	CNVD
Ovarian cancer	19835627	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17920200-17921000	Enhancers	Aorta	Aorta
2	chr9:17920600-17920800	Enhancers	Fetal Kidney	kidney
3	chr9:17920800-17921000	Enhancers	Fetal Muscle Leg	muscle
4	chr9:17921000-17922200	Weak transcription	Aorta	Aorta
5	chr9:17921000-17922200	Weak transcription	Fetal Muscle Leg	muscle
6	chr9:17921000-17922600	Weak transcription	Fetal Kidney	kidney
7	chr9:17922200-17922400	Enhancers	Aorta	Aorta
8	chr9:17922200-17923000	Enhancers	Fetal Muscle Leg	muscle
9	chr9:17922400-17922800	Weak transcription	Aorta	Aorta
10	chr9:17922600-17923000	Enhancers	Fetal Kidney	kidney

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