Variant report

Variant	nsv823184
Chromosome Location	chr5:115071293-115071735
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 74 )

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	rs147711088	chr5:115071369-115071370	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs573363467	chr5:115071381-115071382	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs191908273	chr5:115071394-115071395	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs183237062	chr5:115071395-115071396	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs188652083	chr5:115071408-115071409	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs375855075	chr5:115071412-115071413	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs61035334	chr5:115071419-115071420	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs543555650	chr5:115071429-115071430	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs193143255	chr5:115071456-115071457	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs368644863	chr5:115071465-115071466	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs12651799	chr5:115071508-115071509	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs552635632	chr5:115071514-115071515	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs184854544	chr5:115071525-115071526	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs555190635	chr5:115071538-115071539	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs12655946	chr5:115071549-115071550	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs73780609	chr5:115071557-115071558	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs111254646	chr5:115071602-115071603	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs144258809	chr5:115071622-115071623	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs537698799	chr5:115071623-115071624	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs555976344	chr5:115071631-115071632	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs34794750	chr5:115071633-115071634	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs145517670	chr5:115071648-115071649	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs10038137	chr5:115071656-115071657	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs138239218	chr5:115071673-115071674	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs35502695	chr5:115071698-115071699	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs571974113	chr5:115071706-115071707	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs540974949	chr5:115071727-115071728	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	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	16774939	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
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115060600-115081000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:115068800-115072200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:115069000-115071600	Enhancers	Adipose Nuclei	Adipose
4	chr5:115069200-115072200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:115069200-115074400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:115070000-115071600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr5:115070200-115071600	Enhancers	Primary B cells from peripheral blood	blood
8	chr5:115070200-115073400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr5:115070400-115071600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:115070600-115071600	Flanking Active TSS	Liver	Liver
11	chr5:115070600-115074600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr5:115070800-115071400	Enhancers	HepG2	liver
13	chr5:115070800-115071800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr5:115070800-115071800	Enhancers	Aorta	Aorta
15	chr5:115070800-115073400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:115071000-115071400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr5:115071000-115071600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:115071000-115071600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:115071000-115071600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:115071000-115071600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:115071000-115071800	Enhancers	Primary B cells from cord blood	blood
22	chr5:115071000-115073800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:115071000-115073800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr5:115071000-115074200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:115071000-115074600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr5:115071200-115071600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:115071200-115071600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:115071200-115071600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:115071200-115071600	Enhancers	Brain Substantia Nigra	brain
30	chr5:115071200-115071600	Enhancers	Ovary	ovary
31	chr5:115071400-115071600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr5:115071400-115073600	Weak transcription	HepG2	liver
33	chr5:115071600-115072000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr5:115071600-115072200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:115071600-115072400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:115071600-115072800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:115071600-115073000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr5:115071600-115073000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr5:115071600-115073400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:115071600-115073800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:115071600-115074400	Enhancers	Liver	Liver

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