Variant report

Variant	nsv8419
Chromosome Location	chr9:12681187-12687171
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	CEBPB	chr9:12681461-12681946	IMR90	lung:	n/a	chr9:12681604-12681615
2	CEBPB	chr9:12681436-12681753	ECC-1	luminal epithelium:	n/a	chr9:12681604-12681615
3	CEBPB	chr9:12681514-12681726	HepG2	liver:	n/a	chr9:12681604-12681615
4	CEBPB	chr9:12681471-12681796	Hela-S3	cervix:	n/a	chr9:12681604-12681615
5	CEBPB	chr9:12681521-12681770	A549	lung:	n/a	chr9:12681604-12681615
6	EP300	chr9:12684849-12685415	SK-N-SH	brain:	n/a	n/a
7	FOS	chr9:12685007-12685303	HUVEC	blood vessel:	n/a	n/a
8	FOS	chr9:12681764-12681904	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr9:12681797-12681819	MCF10A-Er-Src	breast:	n/a	n/a
10	FOSL2	chr9:12681635-12682043	A549	lung:	n/a	n/a
11	GATA2	chr9:12684848-12685429	HUVEC	blood vessel:	n/a	n/a
12	GATA3	chr9:12684904-12685437	SK-N-SH	brain:	n/a	n/a
13	GATA3	chr9:12681510-12682063	SK-N-SH	brain:	n/a	n/a
14	GATA3	chr9:12684830-12685368	SK-N-SH	brain:	n/a	n/a
15	MAFF	chr9:12685121-12685373	HepG2	liver:	n/a	chr9:12685260-12685278
16	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
17	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
18	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
19	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
20	MXI1	chr9:12683363-12683467	GM12878	blood:	n/a	n/a
21	NRF1	chr9:12681635-12681695	H1-hESC	embryonic stem cell:	n/a	n/a
22	PBX3	chr9:12681531-12681996	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr9:12684829-12685435	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr9:12686888-12686980	GM12878	blood:	n/a	n/a
25	TCF12	chr9:12684963-12685405	SK-N-SH	brain:	n/a	n/a
26	TCF12	chr9:12681528-12682129	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
TYRP1	TF binding region

Extended variants
information (count: 249 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183566970	chr9:12681196-12681197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188242686	chr9:12681209-12681210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532144307	chr9:12681237-12681238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541813023	chr9:12681239-12681240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181775361	chr9:12681252-12681253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560788958	chr9:12681253-12681254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112162954	chr9:12681261-12681262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113590583	chr9:12681289-12681290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545740723	chr9:12681290-12681291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112257796	chr9:12681313-12681314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535623987	chr9:12681333-12681334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144514685	chr9:12681342-12681343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185729146	chr9:12681374-12681375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78774349	chr9:12681428-12681429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541062224	chr9:12681429-12681430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77966796	chr9:12681431-12681432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs398068471	chr9:12681433-12681434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557466011	chr9:12681435-12681436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577841530	chr9:12681480-12681481	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs74889781	chr9:12681506-12681507	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs563339822	chr9:12681518-12681519	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs529125456	chr9:12681538-12681539	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs181851317	chr9:12681555-12681556	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs186937633	chr9:12681575-12681576	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs565413987	chr9:12681576-12681577	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs62538958	chr9:12681629-12681630	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs10738288	chr9:12681641-12681642	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs191359074	chr9:12681646-12681647	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs533119729	chr9:12681665-12681666	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs549985146	chr9:12681673-12681674	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs113377930	chr9:12681692-12681693	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs111550332	chr9:12681738-12681739	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs10756392	chr9:12681748-12681749	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs535662731	chr9:12681772-12681773	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs76805901	chr9:12681773-12681774	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs371191475	chr9:12681810-12681811	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs145588317	chr9:12681826-12681827	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs534987185	chr9:12681830-12681831	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs76731183	chr9:12681855-12681856	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs147320800	chr9:12681878-12681879	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs535836292	chr9:12681912-12681913	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs10809825	chr9:12681922-12681923	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs62538959	chr9:12681959-12681960	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs573739746	chr9:12682035-12682036	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs369611549	chr9:12682067-12682068	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs561802882	chr9:12682113-12682114	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs376436607	chr9:12682129-12682130	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs140011821	chr9:12682139-12682140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564615544	chr9:12682141-12682142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544988998	chr9:12682150-12682151	Enhancers 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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12679800-12682200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr9:12680000-12681200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr9:12680000-12681600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr9:12680000-12681800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr9:12680200-12681200	Enhancers	NHEK	skin
6	chr9:12680200-12681400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr9:12680200-12681600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr9:12680200-12681600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:12680200-12682200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:12680200-12688200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:12680400-12681400	Enhancers	HMEC	breast
12	chr9:12680800-12681200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:12680800-12681200	Enhancers	NH-A	brain
14	chr9:12680800-12682600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:12681000-12681600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr9:12681000-12684200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr9:12681200-12684800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:12681200-12684800	Weak transcription	NH-A	brain
19	chr9:12681200-12684800	Weak transcription	NHEK	skin
20	chr9:12681400-12682000	Weak transcription	HMEC	breast
21	chr9:12681600-12682000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr9:12681800-12682200	Enhancers	Osteobl	bone
23	chr9:12682000-12682200	Enhancers	HMEC	breast
24	chr9:12682000-12684200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr9:12682200-12684800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:12682600-12683600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr9:12683600-12685600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr9:12684200-12685000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:12684200-12685600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr9:12684200-12686000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr9:12684400-12686000	Enhancers	HUVEC	blood vessel
32	chr9:12684800-12685200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:12684800-12685200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr9:12684800-12685200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr9:12684800-12685400	Enhancers	Placenta Amnion	Placenta Amnion
36	chr9:12684800-12685400	Enhancers	NHEK	skin
37	chr9:12684800-12685600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr9:12684800-12685600	Enhancers	NH-A	brain
39	chr9:12685000-12685400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr9:12685600-12688600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr9:12685600-12689800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr9:12686000-12689400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr9:12686000-12689400	Weak transcription	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links