Variant report

Variant	nsv823291
Chromosome Location	chr5:147405368-147406013
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534388531	chr5:147405375-147405376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150110805	chr5:147405383-147405384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138396841	chr5:147405388-147405389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374222255	chr5:147405435-147405436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10067434	chr5:147405462-147405463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs556885416	chr5:147405483-147405484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546925267	chr5:147405502-147405503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575247369	chr5:147405523-147405524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566819595	chr5:147405555-147405556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78385988	chr5:147405600-147405601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535691776	chr5:147405662-147405663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564682096	chr5:147405710-147405711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35882933	chr5:147405765-147405766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549320786	chr5:147405780-147405781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114533002	chr5:147405789-147405790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112507702	chr5:147405806-147405807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79504952	chr5:147405807-147405808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564853658	chr5:147405841-147405842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183505241	chr5:147405891-147405892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544285264	chr5:147405909-147405910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562861007	chr5:147405922-147405923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188396145	chr5:147405959-147405960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548710625	chr5:147405982-147405983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4705218	chr5:147405994-147405995	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:75)

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
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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147400600-147409800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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