Variant report

Variant	esv2623459
Chromosome Location	chr6:87836588-87839340
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	JUND	chr6:87837526-87837736	HepG2	liver:	n/a	n/a
2	ZNF274	chr6:87837906-87838229	K562	blood:	n/a	n/a

Variant related genes	Relation type
RCN1P1	TF binding region

Extended variants
information (count: 303 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111898745	chr6:87836603-87836604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532106406	chr6:87836658-87836659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547094497	chr6:87836696-87836697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111312739	chr6:87836703-87836704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs67760750	chr6:87836704-87836705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs386407836	chr6:87836707-87836708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs60889927	chr6:87836710-87836711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201941502	chr6:87836711-87836712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185084049	chr6:87836716-87836717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71661288	chr6:87836740-87836741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71014992	chr6:87836760-87836761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140794902	chr6:87836763-87836764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571517750	chr6:87836766-87836767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187972363	chr6:87836769-87836770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72418422	chr6:87836771-87836772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs71898175	chr6:87836775-87836776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149801074	chr6:87836777-87836778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576467235	chr6:87836779-87836780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs55897946	chr6:87836781-87836782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6937730	chr6:87836782-87836783	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
21	rs6917455	chr6:87836807-87836808	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs548349651	chr6:87836821-87836822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187832513	chr6:87836822-87836823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78469754	chr6:87836823-87836824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552012569	chr6:87836824-87836825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113313286	chr6:87836826-87836827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370372427	chr6:87836846-87836847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538618123	chr6:87836855-87836856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs59034165	chr6:87836934-87836935	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs572483679	chr6:87836979-87836980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192352292	chr6:87837023-87837024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116467288	chr6:87837064-87837065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150088219	chr6:87837065-87837066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531191757	chr6:87837070-87837071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200846615	chr6:87837074-87837075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184640170	chr6:87837091-87837092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558220978	chr6:87837100-87837101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs117434512	chr6:87837115-87837116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145483728	chr6:87837132-87837133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78075421	chr6:87837133-87837134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9353452	chr6:87837153-87837154	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs542360635	chr6:87837179-87837180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559120040	chr6:87837198-87837199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141217489	chr6:87837200-87837201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs80092154	chr6:87837209-87837210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113057225	chr6:87837229-87837230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530584392	chr6:87837246-87837247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368278108	chr6:87837293-87837294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562150693	chr6:87837304-87837305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs180823772	chr6:87837338-87837339	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:87836000-87837400	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr6:87836800-87837200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:87837400-87840000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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