Variant report

Variant	esv3376174
Chromosome Location	chr9:13710252-13712500
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543113763	chr9:13710275-13710276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535176505	chr9:13710295-13710296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547122391	chr9:13710334-13710335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563075335	chr9:13710338-13710339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs8192996	chr9:13710345-13710346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs541989852	chr9:13710352-13710353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539742208	chr9:13710353-13710354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556236962	chr9:13710374-13710375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143912552	chr9:13710380-13710381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182459822	chr9:13710401-13710402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146771761	chr9:13710419-13710420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75545698	chr9:13710442-13710443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570822053	chr9:13710472-13710473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112605048	chr9:13710473-13710474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs789585	chr9:13710506-13710507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs564784771	chr9:13710521-13710522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570130941	chr9:13710541-13710542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187837945	chr9:13710559-13710560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193126804	chr9:13710564-13710565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs8192997	chr9:13710589-13710590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs534911445	chr9:13710591-13710592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557815958	chr9:13710606-13710607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs789586	chr9:13710657-13710658	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs542976792	chr9:13710741-13710742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs16930748	chr9:13710743-13710744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572009238	chr9:13710780-13710781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185768481	chr9:13710818-13710819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542322115	chr9:13710879-13710880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562297213	chr9:13710929-13710930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189851609	chr9:13711155-13711156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527925721	chr9:13711185-13711186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550567349	chr9:13711337-13711338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564661579	chr9:13711380-13711381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533694937	chr9:13711397-13711398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115838506	chr9:13711410-13711411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183804378	chr9:13711415-13711416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35155056	chr9:13711421-13711422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188718471	chr9:13711428-13711429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549541624	chr9:13711453-13711454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565867365	chr9:13711468-13711469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370291448	chr9:13711476-13711477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534547668	chr9:13711501-13711502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78082502	chr9:13711502-13711503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180801829	chr9:13711525-13711526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs504564	chr9:13711560-13711561	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs556497233	chr9:13711587-13711588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs504659	chr9:13711595-13711596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs535938786	chr9:13711596-13711597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546078142	chr9:13711625-13711626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35293377	chr9:13711630-13711631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Breast cancer	21611746	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13708200-13716600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:13709000-13716000	Weak transcription	HUVEC	blood vessel
3	chr9:13709400-13716800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr9:13710600-13710800	Enhancers	NH-A	brain

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