Variant report

Variant	nsv521549
Chromosome Location	chr9:12675264-12677412
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10960751	chr9:12675264-12675265	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536867107	chr9:12675283-12675284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10960752	chr9:12675284-12675285	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs75630385	chr9:12675342-12675343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74874037	chr9:12675363-12675364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183357257	chr9:12675379-12675380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs932761	chr9:12675380-12675381	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs932760	chr9:12675421-12675422	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs368686747	chr9:12675462-12675463	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs539898268	chr9:12675477-12675478	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs10960753	chr9:12675522-12675523	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs577473010	chr9:12675525-12675526	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs187489386	chr9:12675563-12675564	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs572361287	chr9:12675582-12675583	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs192737461	chr9:12675630-12675631	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs561590981	chr9:12675647-12675648	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs143272903	chr9:12675660-12675661	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs16929342	chr9:12675661-12675662	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs368443549	chr9:12675662-12675663	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs540152659	chr9:12675685-12675686	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs538590785	chr9:12675707-12675708	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs114774041	chr9:12675710-12675711	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs549154029	chr9:12675715-12675716	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs183213098	chr9:12675737-12675738	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs534907325	chr9:12675761-12675762	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs187878854	chr9:12675807-12675808	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs35740654	chr9:12675872-12675873	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs547500694	chr9:12675890-12675891	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs570808055	chr9:12675904-12675905	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs539413298	chr9:12675935-12675936	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs553676410	chr9:12675957-12675958	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs556637698	chr9:12675959-12675960	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs118044715	chr9:12675979-12675980	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs79213754	chr9:12676022-12676023	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs555530988	chr9:12676192-12676193	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs192654799	chr9:12676202-12676203	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs541690278	chr9:12676231-12676232	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs16929345	chr9:12676236-12676237	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs577582317	chr9:12676271-12676272	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs543022816	chr9:12676287-12676288	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs62538950	chr9:12676306-12676307	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs528959830	chr9:12676316-12676317	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs549242056	chr9:12676330-12676331	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs559585507	chr9:12676339-12676340	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs568726294	chr9:12676362-12676363	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs145537844	chr9:12676399-12676400	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs35434002	chr9:12676411-12676412	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs16929346	chr9:12676417-12676418	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs148766195	chr9:12676423-12676424	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs142418753	chr9:12676443-12676444	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Cancer	20164920	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12672600-12675400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:12674400-12676400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:12675400-12675600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:12675600-12677400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:12676400-12681000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:12677400-12677800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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