Variant report

Variant	nsv824859
Chromosome Location	chr9:12684987-12686760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr9:12684849-12685415	SK-N-SH	brain:	n/a	n/a
2	FOS	chr9:12685007-12685303	HUVEC	blood vessel:	n/a	n/a
3	GATA2	chr9:12684848-12685429	HUVEC	blood vessel:	n/a	n/a
4	GATA3	chr9:12684904-12685437	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr9:12684830-12685368	SK-N-SH	brain:	n/a	n/a
6	MAFF	chr9:12685121-12685373	HepG2	liver:	n/a	chr9:12685260-12685278
7	MAFK	chr9:12685106-12685430	HepG2	liver:	n/a	chr9:12685262-12685278 chr9:12685262-12685273 chr9:12685262-12685273 chr9:12685261-12685275 chr9:12685263-12685274 chr9:12685262-12685277
8	MAFK	chr9:12685117-12685399	Hela-S3	cervix:	n/a	chr9:12685262-12685278 chr9:12685262-12685273 chr9:12685262-12685273 chr9:12685261-12685275 chr9:12685263-12685274 chr9:12685262-12685277
9	MAFK	chr9:12685107-12685441	HepG2	liver:	n/a	chr9:12685262-12685278 chr9:12685262-12685273 chr9:12685262-12685273 chr9:12685261-12685275 chr9:12685263-12685274 chr9:12685262-12685277
10	MAFK	chr9:12684991-12685456	IMR90	lung:	n/a	chr9:12685262-12685278 chr9:12685262-12685273 chr9:12685262-12685273 chr9:12685261-12685275 chr9:12685263-12685274 chr9:12685262-12685277
11	POLR2A	chr9:12684829-12685435	HUVEC	blood vessel:	n/a	n/a
12	TCF12	chr9:12684963-12685405	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
TYRP1	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3908466	chr9:12685002-12685003	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs111589749	chr9:12685013-12685014	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs147303822	chr9:12685036-12685037	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs191298200	chr9:12685051-12685052	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs575797452	chr9:12685059-12685060	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs76969096	chr9:12685065-12685066	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs35324215	chr9:12685069-12685070	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs184530996	chr9:12685116-12685117	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs368321121	chr9:12685145-12685146	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs12351059	chr9:12685152-12685153	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs530661654	chr9:12685175-12685176	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs561509467	chr9:12685176-12685177	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs559205464	chr9:12685268-12685269	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs148786976	chr9:12685270-12685271	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs142459713	chr9:12685305-12685306	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs150917787	chr9:12685309-12685310	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs551716809	chr9:12685344-12685345	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs139249150	chr9:12685363-12685364	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs144223971	chr9:12685365-12685366	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs550106372	chr9:12685370-12685371	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs548116311	chr9:12685374-12685375	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs146568777	chr9:12685428-12685429	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs112201749	chr9:12685429-12685430	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs190594428	chr9:12685430-12685431	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs80144240	chr9:12685453-12685454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375168641	chr9:12685470-12685471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558988385	chr9:12685562-12685563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141306444	chr9:12685612-12685613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538326334	chr9:12685621-12685622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs367821249	chr9:12685672-12685673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549652195	chr9:12685673-12685674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528116951	chr9:12685795-12685796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574999269	chr9:12685861-12685862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540426759	chr9:12685909-12685910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560851047	chr9:12685918-12685919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77445059	chr9:12685928-12685929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545442267	chr9:12685929-12685930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs13293905	chr9:12685943-12685944	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs531342355	chr9:12685945-12685946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182251166	chr9:12685981-12685982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561580039	chr9:12685989-12685990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143332846	chr9:12686000-12686001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145871711	chr9:12686038-12686039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185196084	chr9:12686069-12686070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375531170	chr9:12686079-12686080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13298284	chr9:12686138-12686139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13298290	chr9:12686141-12686142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375851383	chr9:12686152-12686153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189146194	chr9:12686172-12686173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548167525	chr9:12686179-12686180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Melanoma	20877625	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12680200-12688200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:12683600-12685600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:12684200-12685000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:12684200-12685600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr9:12684200-12686000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:12684400-12686000	Enhancers	HUVEC	blood vessel
7	chr9:12684800-12685200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:12684800-12685200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:12684800-12685200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:12684800-12685400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr9:12684800-12685400	Enhancers	NHEK	skin
12	chr9:12684800-12685600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:12684800-12685600	Enhancers	NH-A	brain
14	chr9:12685000-12685400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:12685600-12688600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:12685600-12689800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr9:12686000-12689400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr9:12686000-12689400	Weak transcription	HUVEC	blood vessel

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