Variant report

Variant	esv3350749
Chromosome Location	chr9:18612307-18612791
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370450871	chr9:18612349-18612350	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557797546	chr9:18612356-18612357	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572799983	chr9:18612362-18612363	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146631565	chr9:18612371-18612372	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374407218	chr9:18612382-18612383	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10963667	chr9:18612384-18612385	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs76008363	chr9:18612433-18612434	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541971309	chr9:18612460-18612461	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547790349	chr9:18612473-18612474	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368948180	chr9:18612540-18612541	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559653408	chr9:18612547-18612548	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139121744	chr9:18612568-18612569	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113652545	chr9:18612582-18612583	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7028404	chr9:18612592-18612593	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs554373167	chr9:18612594-18612595	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs36031735	chr9:18612622-18612623	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs528806066	chr9:18612626-18612627	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182352383	chr9:18612721-18612722	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568693288	chr9:18612722-18612723	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529456093	chr9:18612735-18612736	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550440882	chr9:18612738-18612739	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568915517	chr9:18612742-18612743	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376384668	chr9:18612754-18612755	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187874263	chr9:18612759-18612760	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18606200-18624400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr9:18606600-18632200	Weak transcription	NHLF	lung
3	chr9:18607000-18614000	Weak transcription	Right Atrium	heart
4	chr9:18607200-18622000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr9:18607400-18622200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr9:18608800-18622000	Weak transcription	Osteobl	bone
7	chr9:18608800-18622400	Weak transcription	NH-A	brain
8	chr9:18610600-18612600	Enhancers	Fetal Stomach	stomach
9	chr9:18611000-18612400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:18611000-18612600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:18611000-18612600	Enhancers	Adipose Nuclei	Adipose
12	chr9:18611400-18613000	Enhancers	HSMMtube	muscle
13	chr9:18611400-18622200	Weak transcription	Fetal Heart	heart
14	chr9:18611800-18612600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr9:18612000-18613800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr9:18612000-18614600	Weak transcription	Brain Hippocampus Middle	brain
17	chr9:18612000-18630600	Weak transcription	Aorta	Aorta
18	chr9:18612200-18614000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr9:18612200-18614000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr9:18612200-18615600	Weak transcription	HSMM	muscle
21	chr9:18612200-18617200	Weak transcription	Fetal Lung	lung
22	chr9:18612200-18617800	Weak transcription	NHDF-Ad	bronchial
23	chr9:18612400-18614400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:18612600-18617200	Weak transcription	Fetal Stomach	stomach
25	chr9:18612600-18627600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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