Variant report

Variant	esv3324676
Chromosome Location	chr5:116694429-116694967
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149513910	chr5:116694453-116694454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532155234	chr5:116694468-116694469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548798025	chr5:116694483-116694484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570238193	chr5:116694489-116694490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370208504	chr5:116694515-116694516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537690320	chr5:116694557-116694558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112130643	chr5:116694564-116694565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373684979	chr5:116694587-116694588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546087556	chr5:116694646-116694647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376664404	chr5:116694670-116694671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570815189	chr5:116694690-116694691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112850238	chr5:116694694-116694695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34411893	chr5:116694743-116694744	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539924678	chr5:116694744-116694745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561412633	chr5:116694755-116694756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546071267	chr5:116694757-116694758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554468363	chr5:116694776-116694777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574287793	chr5:116694784-116694785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543252545	chr5:116694813-116694814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528978372	chr5:116694862-116694863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189898840	chr5:116694895-116694896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181171580	chr5:116694916-116694917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545902094	chr5:116694935-116694936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116687200-116697200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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