Variant report

Variant	esv1800457
Chromosome Location	chr9:10626531-10644894
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	chr9:10635667-10636010	A549	lung:	n/a	chr9:10635839-10635852 chr9:10635840-10635851 chr9:10635841-10635850
2	CEBPB	chr9:10631704-10631897	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr9:10635685-10636024	IMR90	lung:	n/a	chr9:10635839-10635852 chr9:10635840-10635851 chr9:10635841-10635850
4	CEBPB	chr9:10635667-10636017	HepG2	liver:	n/a	chr9:10635839-10635852 chr9:10635840-10635851 chr9:10635841-10635850
5	EP300	chr9:10626972-10626974	GM12878	blood:	n/a	n/a
6	FAM48A	chr9:10637606-10637717	GM12878	blood:	n/a	n/a
7	POLR2A	chr9:10644861-10645120	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr9:10644152-10644352	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr9:10637051-10637129	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr9:10631606-10631747	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr9:10633856-10634056	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr9:10642453-10642635	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr9:10631990-10632518	MCF10A-Er-Src	breast:	n/a	chr9:10632246-10632254

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPRD-1	chr9:10632083-10632203	ENSG00000232035
2	lnc-PTPRD-1	chr9:10631750-10631785	ENSG00000232035

Variant related genes	Relation type
ENSG00000232035	TF binding region

Extended variants
information (count: 124 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542132771	chr9:10631208-10631209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562436361	chr9:10631213-10631214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527869243	chr9:10631217-10631218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78777076	chr9:10631368-10631369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564346093	chr9:10631409-10631410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550145426	chr9:10631432-10631433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532040890	chr9:10631490-10631491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551872816	chr9:10631522-10631523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568731857	chr9:10631545-10631546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566964110	chr9:10631549-10631550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536136256	chr9:10631553-10631554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371546578	chr9:10631565-10631566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531366307	chr9:10631578-10631579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1322295	chr9:10631603-10631604	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs568385607	chr9:10631609-10631610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566661573	chr9:10631639-10631640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181839836	chr9:10631653-10631654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553968754	chr9:10631656-10631657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185034009	chr9:10631745-10631746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539913267	chr9:10631763-10631764	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs72547155	chr9:10631776-10631777	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs553107384	chr9:10631777-10631778	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs397819617	chr9:10631784-10631785	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs370097982	chr9:10631785-10631786	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs372000369	chr9:10631786-10631787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556720116	chr9:10631789-10631790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143244813	chr9:10632083-10632084	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs71216125	chr9:10632111-10632112	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs75081343	chr9:10632114-10632115	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs375514977	chr9:10632115-10632116	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs71501072	chr9:10632116-10632117	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs10959208	chr9:10632118-10632119	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs557385962	chr9:10632152-10632153	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs181042100	chr9:10632156-10632157	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs1322298	chr9:10632165-10632166	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs561535382	chr9:10632167-10632168	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs1322299	chr9:10632181-10632182	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs547735675	chr9:10632206-10632207	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs570637939	chr9:10632231-10632232	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs539676680	chr9:10632263-10632264	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs549995367	chr9:10632276-10632277	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs372502014	chr9:10632292-10632293	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs559957199	chr9:10632294-10632295	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs570176852	chr9:10632303-10632304	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs535579131	chr9:10632311-10632312	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs555694244	chr9:10632357-10632358	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs10959209	chr9:10632384-10632385	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs10809141	chr9:10632427-10632428	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs10809142	chr9:10632430-10632431	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs73398297	chr9:10632452-10632453	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:101)

Disease	PMID	Source
abnormal development	18461090	CNVD
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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10631200-10631800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr9:10633200-10633600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:10640400-10640800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links