Variant report

Variant	esv2545701
Chromosome Location	chr4:84767595-84769012
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:84767839..84770555-chr4:84773187..84775234,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551247417	chr4:84767829-84767830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150092376	chr4:84767839-84767840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138578784	chr4:84767891-84767892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72935254	chr4:84767892-84767893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs146242439	chr4:84767896-84767897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539641227	chr4:84768015-84768016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377665446	chr4:84768019-84768020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184733811	chr4:84768139-84768140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187205204	chr4:84768146-84768147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192171559	chr4:84768186-84768187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183847974	chr4:84768189-84768190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138069920	chr4:84768206-84768207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188680006	chr4:84768253-84768254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7663480	chr4:84768278-84768279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs533643888	chr4:84768289-84768290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542891127	chr4:84768291-84768292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142572108	chr4:84768329-84768330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72659233	chr4:84768367-84768368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550114763	chr4:84768421-84768422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180809121	chr4:84768478-84768479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532854558	chr4:84768484-84768485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184531035	chr4:84768485-84768486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566529805	chr4:84768535-84768536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72935257	chr4:84768656-84768657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371456050	chr4:84768700-84768701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190594272	chr4:84768705-84768706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115831885	chr4:84768722-84768723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13127644	chr4:84768737-84768738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs556554946	chr4:84768744-84768745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs578058822	chr4:84768783-84768784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2129966	chr4:84768801-84768802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs554370783	chr4:84768804-84768805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572531883	chr4:84768844-84768845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577349080	chr4:84768857-84768858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144112667	chr4:84768864-84768865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554846404	chr4:84768874-84768875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181930011	chr4:84768907-84768908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543822078	chr4:84768952-84768953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186510000	chr4:84768998-84768999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:84760000-84772400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:84767400-84767800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:84767600-84767800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr4:84767800-84770000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:84767800-84770200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:84768000-84768200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr4:84768200-84771800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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