Variant report

Variant	esv275137
Chromosome Location	chr4:74613334-74617282
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:74613677..74615255-chr4:74615539..74617498,2	MCF-7	breast:
2	chr4:74612735..74615091-chr4:74635829..74638388,2	K562	blood:
3	chr4:74613405..74615443-chr4:74615480..74619617,3	K562	blood:
4	chr4:74606241..74607772-chr4:74611875..74613764,2	K562	blood:
5	chr4:74613567..74615922-chr4:74616921..74619617,2	K562	blood:
6	chr4:74613677..74615255-chr4:74615539..74617498,2	MCF-7	breast:
7	chr4:74616774..74619634-chr4:74626803..74629633,2	K562	blood:
8	chr4:74613405..74615443-chr4:74615480..74619617,3	K562	blood:
9	chr4:74609331..74611384-chr4:74617018..74619785,2	K562	blood:
10	chr4:74613441..74615334-chr4:74623016..74625012,2	K562	blood:
11	chr4:74616341..74618099-chr4:74619715..74622030,2	K562	blood:
12	chr4:74615686..74617847-chr4:74622511..74624521,2	K562	blood:
13	chr4:74606241..74607909-chr4:74611875..74614295,2	K562	blood:
14	chr4:74613567..74615922-chr4:74616921..74619617,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000169429	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11729759	chr4:74613334-74613335	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs386676040	chr4:74613397-74613398	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs73827899	chr4:74613398-74613399	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs539187337	chr4:74613479-74613480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs145468022	chr4:74613481-74613482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs57970897	chr4:74613482-74613483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs397969331	chr4:74613486-74613487	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs554490675	chr4:74613515-74613516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs142861452	chr4:74613570-74613571	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs530655296	chr4:74613598-74613599	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs370776014	chr4:74613601-74613602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs144447926	chr4:74613624-74613625	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543654833	chr4:74613632-74613633	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs182120606	chr4:74613661-74613662	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs187877565	chr4:74613681-74613682	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs375176225	chr4:74613743-74613744	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs540809622	chr4:74613758-74613759	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs550155909	chr4:74613845-74613846	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566962297	chr4:74613853-74613854	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs559147944	chr4:74613913-74613914	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs527756967	chr4:74613971-74613972	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs367844246	chr4:74614050-74614051	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs535853479	chr4:74614105-74614106	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs193043774	chr4:74614140-74614141	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs13109377	chr4:74614154-74614155	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs67499344	chr4:74614166-74614167	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs200248386	chr4:74614167-74614168	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538842591	chr4:74614178-74614179	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs185827247	chr4:74614218-74614219	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs1951236	chr4:74614249-74614250	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs529649751	chr4:74614250-74614251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs547989720	chr4:74614258-74614259	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs368525335	chr4:74614285-74614286	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs147992191	chr4:74614287-74614288	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539477901	chr4:74614333-74614334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141627854	chr4:74614352-74614353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569777893	chr4:74614380-74614381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536640341	chr4:74614398-74614399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566349702	chr4:74614400-74614401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1951237	chr4:74614405-74614406	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs573575271	chr4:74614408-74614409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201463168	chr4:74614454-74614455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199716591	chr4:74614480-74614481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372518963	chr4:74614483-74614484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80269772	chr4:74614499-74614500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552714236	chr4:74614556-74614557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577772868	chr4:74614580-74614581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546234418	chr4:74614690-74614691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564422954	chr4:74614738-74614739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6446955	chr4:74614739-74614740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

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
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Aortic dissecting aneurysms	22263138	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74606400-74616800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:74607400-74613400	Weak transcription	NHEK	skin
3	chr4:74607400-74616800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:74616000-74617200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:74616800-74617200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:74617000-74617200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:74617000-74617400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:74617000-74617400	Enhancers	K562	blood
9	chr4:74617200-74617600	Enhancers	GM12878-XiMat	blood
10	chr4:74617200-74618800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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