Variant report

Variant	esv3390940
Chromosome Location	chr5:144943295-144943631
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	chr5:144943596..144945389-chr5:144978241..144980078,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371051082	chr5:144943320-144943321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113397184	chr5:144943338-144943339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11167906	chr5:144943354-144943355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374279263	chr5:144943363-144943364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187732057	chr5:144943379-144943380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146354086	chr5:144943469-144943470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139074138	chr5:144943475-144943476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62392706	chr5:144943534-144943535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs141776893	chr5:144943537-144943538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529921228	chr5:144943538-144943539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6893638	chr5:144943566-144943567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs191447571	chr5:144943567-144943568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535934180	chr5:144943570-144943571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150592444	chr5:144943571-144943572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571390368	chr5:144943586-144943587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534211141	chr5:144943593-144943594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377693431	chr5:144943619-144943620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553055280	chr5:144943621-144943622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567952192	chr5:144943625-144943626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	16864856	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:144924000-144949000	Weak transcription	Aorta	Aorta
2	chr5:144943200-144947600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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