Variant report

Variant	esv3351960
Chromosome Location	chr9:7858258-7858786
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	chr9:7856837..7858769-chr9:7859331..7861674,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186180046	chr9:7858278-7858279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560033594	chr9:7858298-7858299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527954429	chr9:7858317-7858318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533442592	chr9:7858323-7858324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547715712	chr9:7858324-7858325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190748212	chr9:7858381-7858382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570101413	chr9:7858428-7858429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181546606	chr9:7858430-7858431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530385944	chr9:7858437-7858438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548673187	chr9:7858438-7858439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567022176	chr9:7858439-7858440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146263323	chr9:7858451-7858452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546465028	chr9:7858452-7858453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138881416	chr9:7858456-7858457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538575266	chr9:7858457-7858458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141844757	chr9:7858479-7858480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576512238	chr9:7858494-7858495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541642522	chr9:7858496-7858497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113323139	chr9:7858506-7858507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537393761	chr9:7858548-7858549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555942955	chr9:7858569-7858570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561466472	chr9:7858572-7858573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574039460	chr9:7858623-7858624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541644229	chr9:7858629-7858630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538023499	chr9:7858649-7858650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186724019	chr9:7858651-7858652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368984574	chr9:7858671-7858672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191166199	chr9:7858688-7858689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549587502	chr9:7858711-7858712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs16926813	chr9:7858771-7858772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

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
Pancreatic cancer	21811587	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7841000-7861200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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