Variant report

Variant	esv3424263
Chromosome Location	chr4:127542609-127543344
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	chr4:127542507..127544867-chr4:127550672..127553414,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150371241	chr4:127542616-127542617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs70963937	chr4:127542622-127542623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200279072	chr4:127542623-127542624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200943118	chr4:127542625-127542626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529321737	chr4:127542626-127542627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180756945	chr4:127542633-127542634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565698947	chr4:127542653-127542654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1808036	chr4:127542654-127542655	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs551797001	chr4:127542667-127542668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1808037	chr4:127542668-127542669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs538173885	chr4:127542732-127542733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375586836	chr4:127542748-127542749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183848360	chr4:127542749-127542750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10034810	chr4:127542796-127542797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs13435151	chr4:127542860-127542861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs572218631	chr4:127542878-127542879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138739851	chr4:127542884-127542885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557770242	chr4:127542920-127542921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74740828	chr4:127543000-127543001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72672081	chr4:127543052-127543053	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs188513176	chr4:127543053-127543054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561915813	chr4:127543163-127543164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7686450	chr4:127543200-127543201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs541077368	chr4:127543295-127543296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181285744	chr4:127543318-127543319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371096903	chr4:127543324-127543325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533506808	chr4:127543341-127543342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127541400-127548400	Weak transcription	K562	blood

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