Variant report

Variant	esv3405472
Chromosome Location	chr4:68653857-68654955
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	chr4:68645150..68645855-chr4:68653498..68654116,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534179518	chr4:68653862-68653863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201147180	chr4:68653863-68653864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71669180	chr4:68653873-68653874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554583266	chr4:68653976-68653977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574365392	chr4:68654004-68654005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547437970	chr4:68654065-68654066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76839373	chr4:68654115-68654116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563435867	chr4:68654121-68654122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532302730	chr4:68654135-68654136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376395793	chr4:68654228-68654229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34955914	chr4:68654230-68654231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373308575	chr4:68654231-68654232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186548079	chr4:68654232-68654233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569069199	chr4:68654234-68654235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189762080	chr4:68654238-68654239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551286159	chr4:68654243-68654244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571510563	chr4:68654246-68654247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs59849392	chr4:68654257-68654258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565377404	chr4:68654355-68654356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575055031	chr4:68654405-68654406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139974639	chr4:68654545-68654546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547461456	chr4:68654559-68654560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567620210	chr4:68654632-68654633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145489765	chr4:68654634-68654635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78262845	chr4:68654643-68654644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74764689	chr4:68654695-68654696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2582358	chr4:68654739-68654740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs182796420	chr4:68654753-68654754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2582357	chr4:68654774-68654775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs141804975	chr4:68654791-68654792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369220710	chr4:68654795-68654796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534379768	chr4:68654814-68654815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373987728	chr4:68654833-68654834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574325212	chr4:68654930-68654931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147695682	chr4:68654934-68654935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Lung cancer	18438408	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
Multiple myeloma	16616336	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
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Depressive disorder	21152026	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:68648600-68654200	Weak transcription	Primary T cells from cord blood	blood
2	chr4:68651400-68668800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:68652200-68654000	Weak transcription	HMEC	breast
4	chr4:68652800-68675000	Weak transcription	Gastric	stomach

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