Variant report

Variant	esv3346865
Chromosome Location	chr9:6210982-6211532
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560574270	chr9:6211003-6211004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs182677785	chr9:6211022-6211023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs534945076	chr9:6211049-6211050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs73396589	chr9:6211056-6211057	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs572072947	chr9:6211082-6211083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs77204163	chr9:6211169-6211170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs550808883	chr9:6211190-6211191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs569057057	chr9:6211199-6211200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs530046794	chr9:6211213-6211214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547863699	chr9:6211225-6211226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145117922	chr9:6211285-6211286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533843884	chr9:6211286-6211287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570345521	chr9:6211317-6211318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558701837	chr9:6211321-6211322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571018293	chr9:6211357-6211358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139001466	chr9:6211367-6211368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201149800	chr9:6211399-6211400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28406729	chr9:6211405-6211406	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs185869430	chr9:6211439-6211440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542543480	chr9:6211446-6211447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs137882320	chr9:6211453-6211454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529093185	chr9:6211484-6211485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202084854	chr9:6211494-6211495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199916920	chr9:6211497-6211498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527680041	chr9:6211501-6211502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367759556	chr9:6211503-6211504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
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
Disorders of sex development	21048976	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
Oral squamous cell carcinoma	17134496	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
Developmental delay	21147756	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
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
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6210200-6211000	ZNF genes & repeats	Aorta	Aorta
2	chr9:6210800-6211200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:6211200-6212600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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