Variant report

Variant	esv2073574
Chromosome Location	chr9:7194663-7195015
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:7193931..7197834-chr9:7198175..7201948,5	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550963262	chr9:7194683-7194684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367994363	chr9:7194705-7194706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186482173	chr9:7194722-7194723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116832451	chr9:7194762-7194763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201802444	chr9:7194768-7194769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564416687	chr9:7194769-7194770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200194979	chr9:7194780-7194781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142416774	chr9:7194783-7194784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs151321017	chr9:7194791-7194792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550942271	chr9:7194800-7194801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565965321	chr9:7194803-7194804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200785716	chr9:7194813-7194814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191315771	chr9:7194858-7194859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2770748	chr9:7194880-7194881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs548800804	chr9:7194887-7194888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377058982	chr9:7194892-7194893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576291167	chr9:7194893-7194894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71315581	chr9:7194897-7194898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2770749	chr9:7194898-7194899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2820916	chr9:7194899-7194900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376809121	chr9:7194907-7194908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552747883	chr9:7194915-7194916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577577984	chr9:7194919-7194920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368919687	chr9:7194924-7194925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201730574	chr9:7194925-7194926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113885509	chr9:7194928-7194929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28404070	chr9:7194932-7194933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71315582	chr9:7194948-7194949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148057852	chr9:7194949-7194950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10976113	chr9:7194956-7194957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10976114	chr9:7194959-7194960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543308256	chr9:7194965-7194966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10976115	chr9:7194967-7194968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111550986	chr9:7194979-7194980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201581102	chr9:7194994-7194995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11506701	chr9:7195012-7195013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	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
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7191200-7196600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:7192600-7201400	Weak transcription	Psoas Muscle	Psoas

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