Variant report

Variant	nsv972295
Chromosome Location	chr9:14920837-14922556
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	CTCF	chr9:14921019-14921100	LNCaP	prostate:	n/a	n/a
2	FOSL2	chr9:14920749-14921285	HepG2	liver:	n/a	n/a
3	FOSL2	chr9:14920755-14921219	HepG2	liver:	n/a	n/a
4	FOXA1	chr9:14920819-14921156	HepG2	liver:	n/a	n/a
5	FOXA1	chr9:14920845-14921170	HepG2	liver:	n/a	n/a
6	FOXA1	chr9:14920690-14921296	HepG2	liver:	n/a	n/a
7	FOXA1	chr9:14920659-14921309	HepG2	liver:	n/a	n/a
8	FOXA2	chr9:14920976-14921168	A549	lung:	n/a	n/a
9	FOXA2	chr9:14920823-14921137	HepG2	liver:	n/a	n/a
10	HEY1	chr9:14920832-14921291	HepG2	liver:	n/a	n/a
11	HNF4A	chr9:14920865-14921148	HepG2	liver:	n/a	n/a
12	JUND	chr9:14921398-14921563	HepG2	liver:	n/a	n/a
13	JUND	chr9:14920867-14921077	HepG2	liver:	n/a	n/a
14	JUND	chr9:14920827-14921121	HepG2	liver:	n/a	n/a
15	MAFF	chr9:14920866-14921068	HepG2	liver:	n/a	n/a
16	MYBL2	chr9:14920684-14921181	HepG2	liver:	n/a	n/a
17	POLR2A	chr9:14920988-14921102	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr9:14920900-14921214	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr9:14920894-14921179	HepG2	liver:	n/a	n/a
20	RXRA	chr9:14920829-14921102	HepG2	liver:	n/a	n/a
21	SP1	chr9:14920798-14921213	HepG2	liver:	n/a	n/a
22	TCF12	chr9:14920886-14921126	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
LDHAP4	TF binding region

Extended variants
information (count: 97 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556435128	chr9:14920837-14920838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185665630	chr9:14920865-14920866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75532023	chr9:14920884-14920885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111881629	chr9:14920894-14920895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572809729	chr9:14920903-14920904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540224129	chr9:14920904-14920905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140026380	chr9:14920923-14920924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs55751930	chr9:14920974-14920975	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs530187410	chr9:14920976-14920977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146299173	chr9:14920996-14920997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139330621	chr9:14920997-14920998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544901127	chr9:14921024-14921025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560002219	chr9:14921039-14921040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527622517	chr9:14921046-14921047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548964518	chr9:14921066-14921067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150003675	chr9:14921114-14921115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531672165	chr9:14921122-14921123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550264935	chr9:14921127-14921128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571720657	chr9:14921156-14921157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148654843	chr9:14921158-14921159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554446642	chr9:14921178-14921179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566373001	chr9:14921214-14921215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533165996	chr9:14921234-14921235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144536221	chr9:14921236-14921237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555361148	chr9:14921250-14921251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201254922	chr9:14921279-14921280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573693080	chr9:14921296-14921297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547130172	chr9:14921311-14921312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543941494	chr9:14921320-14921321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556199954	chr9:14921329-14921330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114622968	chr9:14921330-14921331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73642462	chr9:14921349-14921350	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs559964070	chr9:14921389-14921390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527537117	chr9:14921390-14921391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369084460	chr9:14921415-14921416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542522769	chr9:14921481-14921482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566830184	chr9:14921490-14921491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560913143	chr9:14921558-14921559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192932090	chr9:14921568-14921569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141133687	chr9:14921607-14921608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571703927	chr9:14921640-14921641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532599136	chr9:14921656-14921657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111994725	chr9:14921688-14921689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2030594	chr9:14921722-14921723	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs566285139	chr9:14921728-14921729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150926268	chr9:14921747-14921748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555322457	chr9:14921806-14921807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570277698	chr9:14921821-14921822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537829653	chr9:14921822-14921823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538025638	chr9:14921823-14921824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	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
Breast cancer	21611746	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14910400-14921000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:14919000-14922800	Enhancers	HepG2	liver
3	chr9:14920600-14924200	Weak transcription	Adipose Nuclei	Adipose
4	chr9:14920600-14935200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:14921000-14921200	Enhancers	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links