Variant report

Variant	esv274906
Chromosome Location	chr4:86179783-86184812
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:86180824..86182598-chr4:86183474..86185368,2	MCF-7	breast:
2	chr4:86180824..86182598-chr4:86183474..86185368,2	MCF-7	breast:
3	chr4:86181906..86184238-chr4:86188477..86190210,2	MCF-7	breast:

Extended variants
information (count: 112 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538095230	chr4:86179819-86179820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551489161	chr4:86179898-86179899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79907264	chr4:86179948-86179949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12502364	chr4:86179966-86179967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs538912664	chr4:86179978-86179979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11934914	chr4:86180067-86180068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs572361685	chr4:86180081-86180082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542767246	chr4:86180110-86180111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532916007	chr4:86180138-86180139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140907110	chr4:86180164-86180165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550462318	chr4:86180222-86180223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576610264	chr4:86180278-86180279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72652194	chr4:86180335-86180336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs7688124	chr4:86180357-86180358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs555990146	chr4:86180408-86180409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533284987	chr4:86180475-86180476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551602556	chr4:86180514-86180515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7688707	chr4:86180616-86180617	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs527322462	chr4:86180632-86180633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142854363	chr4:86180651-86180652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567051599	chr4:86180655-86180656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10611899	chr4:86180737-86180738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200129849	chr4:86180741-86180742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145039291	chr4:86180803-86180804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528140191	chr4:86180882-86180883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146379253	chr4:86180925-86180926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368261720	chr4:86180928-86180929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549978426	chr4:86180947-86180948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571480033	chr4:86180950-86180951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566814758	chr4:86180954-86180955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs60520068	chr4:86180970-86180971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138970603	chr4:86181022-86181023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35135876	chr4:86181026-86181027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554409169	chr4:86181031-86181032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7689227	chr4:86181091-86181092	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs141538925	chr4:86181092-86181093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181595693	chr4:86181110-86181111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79164304	chr4:86181148-86181149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78578004	chr4:86181166-86181167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556393759	chr4:86181196-86181197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34245404	chr4:86181229-86181230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577871833	chr4:86181232-86181233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563284393	chr4:86181247-86181248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544867303	chr4:86181270-86181271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185867178	chr4:86181320-86181321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543423937	chr4:86181331-86181332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191230237	chr4:86181332-86181333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530569283	chr4:86181398-86181399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560515231	chr4:86181411-86181412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563196954	chr4:86181472-86181473	Enhancers	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
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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86179400-86180600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:86180600-86181800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:86181800-86183000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:86183200-86183400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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