Variant report

Variant	nsv526817
Chromosome Location	chr5:5181558-5183783
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	chr5:5177669..5180666-chr5:5181916..5184715,2	K562	blood:

Extended variants
information (count: 111 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1366167	chr5:5181558-5181559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111641106	chr5:5181559-5181560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190580155	chr5:5181567-5181568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13177816	chr5:5181634-5181635	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs77561019	chr5:5181673-5181674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148732215	chr5:5181674-5181675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142346658	chr5:5181685-5181686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552149204	chr5:5181718-5181719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376396157	chr5:5181745-5181746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78477203	chr5:5181779-5181780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534753488	chr5:5181819-5181820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13176907	chr5:5181829-5181830	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs10036706	chr5:5181855-5181856	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539707948	chr5:5181884-5181885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs151286024	chr5:5181912-5181913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557668445	chr5:5181927-5181928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7724547	chr5:5181928-5181929	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs538679537	chr5:5181936-5181937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558550017	chr5:5181944-5181945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371237970	chr5:5181946-5181947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181962002	chr5:5181948-5181949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72724113	chr5:5182006-5182007	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs368809450	chr5:5182027-5182028	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs185764162	chr5:5182034-5182035	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs534123189	chr5:5182037-5182038	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs188974538	chr5:5182049-5182050	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs543231476	chr5:5182154-5182155	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs376978039	chr5:5182175-5182176	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs369076448	chr5:5182205-5182206	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs373309305	chr5:5182228-5182229	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs72647742	chr5:5182242-5182243	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs532263803	chr5:5182245-5182246	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs370658225	chr5:5182252-5182253	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs375493374	chr5:5182270-5182271	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs545801346	chr5:5182271-5182272	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs61748184	chr5:5182286-5182287	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs528582583	chr5:5182291-5182292	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs200574267	chr5:5182295-5182296	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs371488040	chr5:5182329-5182330	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs374682555	chr5:5182363-5182364	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs115892769	chr5:5182364-5182365	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs202209661	chr5:5182370-5182371	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs200139658	chr5:5182374-5182375	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs200448098	chr5:5182395-5182396	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs201921839	chr5:5182409-5182410	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs550887523	chr5:5182429-5182430	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs571172478	chr5:5182431-5182432	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs540092185	chr5:5182439-5182440	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs375151913	chr5:5182450-5182451	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs542722052	chr5:5182536-5182537	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Glioblastoma multiforme	22286061	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Schizophrenia	23813976	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5176200-5181800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:5177200-5181800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:5177600-5183200	Weak transcription	Gastric	stomach
4	chr5:5177600-5185000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:5179000-5182200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:5179000-5188400	Weak transcription	Liver	Liver
7	chr5:5179400-5183200	Weak transcription	Fetal Lung	lung
8	chr5:5180000-5181800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:5180200-5182000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:5180400-5181800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:5180400-5181800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:5180400-5181800	Weak transcription	Ovary	ovary
13	chr5:5180400-5182000	Weak transcription	Fetal Kidney	kidney
14	chr5:5180400-5182200	Weak transcription	Pancreas	Pancrea
15	chr5:5180400-5182400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:5180400-5182600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:5180400-5182800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:5180400-5182800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:5180400-5183000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:5180400-5183400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr5:5180400-5184800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr5:5180600-5182000	Weak transcription	Fetal Muscle Leg	muscle
23	chr5:5180600-5182400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr5:5180600-5183000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:5181000-5181800	Weak transcription	NH-A	brain
26	chr5:5181000-5182400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:5181400-5183000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:5181800-5182000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:5181800-5183000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr5:5181800-5184000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:5181800-5184000	Enhancers	NH-A	brain
32	chr5:5181800-5185200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:5181800-5185200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:5181800-5185200	Enhancers	Ovary	ovary
35	chr5:5182000-5182400	Enhancers	Fetal Muscle Leg	muscle
36	chr5:5182000-5182600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:5182000-5182800	Enhancers	Fetal Kidney	kidney
38	chr5:5182000-5184000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:5182000-5200400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:5182200-5182400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:5182200-5182400	Enhancers	Pancreas	Pancrea
42	chr5:5182200-5182400	Enhancers	Placenta Amnion	Placenta Amnion
43	chr5:5182200-5182600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr5:5182400-5182600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr5:5182400-5182800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:5182400-5183000	Weak transcription	Pancreas	Pancrea
47	chr5:5182400-5183200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr5:5182400-5183600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr5:5182400-5184000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:5182600-5183000	Enhancers	HUES48 Cell Line	embryonic stem cell

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