Variant report

Variant	nsv880810
Chromosome Location	chr5:17788303-17828116
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:17815768..17818436-chr5:17823259..17825187,2	MCF-7	breast:
2	chr5:17801716..17804540-chr5:17805229..17807105,2	K562	blood:
3	chr5:17798564..17800322-chr5:17802790..17805535,2	K562	blood:
4	chr5:17815768..17818436-chr5:17823259..17825187,2	MCF-7	breast:
5	chr5:17798564..17800322-chr5:17802790..17805535,2	K562	blood:
6	chr5:17788405..17790978-chr5:17794011..17796191,2	MCF-7	breast:
7	chr5:17801716..17804540-chr5:17805229..17807105,2	K562	blood:
8	chr5:17788405..17790978-chr5:17794011..17796191,2	MCF-7	breast:
9	chr5:17827590..17829459-chr5:17831524..17834122,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BASP1-7	chr5:17811561-17811658	NONHSAT100666

No data

Extended variants
information (count: 1464 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1464 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570845476	chr5:17790038-17790039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140213480	chr5:17790062-17790063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs80320232	chr5:17790073-17790074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6859864	chr5:17790083-17790084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570055085	chr5:17790116-17790117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375376745	chr5:17790126-17790127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535712368	chr5:17790156-17790157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554271606	chr5:17790180-17790181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568013635	chr5:17790275-17790276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6414886	chr5:17790328-17790329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1514852	chr5:17790331-17790332	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs115980305	chr5:17790343-17790344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546058629	chr5:17790364-17790365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112307333	chr5:17790404-17790405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185393447	chr5:17790411-17790412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533812731	chr5:17790545-17790546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11960755	chr5:17790562-17790563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531750138	chr5:17790573-17790574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189752019	chr5:17790586-17790587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4444974	chr5:17790597-17790598	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs566844469	chr5:17794232-17794233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7443766	chr5:17794260-17794261	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs376057314	chr5:17794272-17794273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552739937	chr5:17794284-17794285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569352825	chr5:17794313-17794314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538480785	chr5:17794314-17794315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555103507	chr5:17794329-17794330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142450793	chr5:17794341-17794342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575034813	chr5:17794368-17794369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74881025	chr5:17794380-17794381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs151302190	chr5:17794455-17794456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571457792	chr5:17794532-17794533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs5866268	chr5:17794563-17794564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111836949	chr5:17794569-17794570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs117493454	chr5:17794594-17794595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74776436	chr5:17794595-17794596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185779333	chr5:17794604-17794605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544581606	chr5:17794614-17794615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189892742	chr5:17794625-17794626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553888102	chr5:17794650-17794651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140525370	chr5:17794656-17794657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565450844	chr5:17794671-17794672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561093292	chr5:17794690-17794691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17659526	chr5:17794707-17794708	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs549462832	chr5:17794733-17794734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143338046	chr5:17794739-17794740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535910741	chr5:17794749-17794750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554167723	chr5:17794753-17794754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546838644	chr5:17794760-17794761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34882055	chr5:17794765-17794766	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
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
Cervical squamous cell carcinoma	21590768	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
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
Multiple myeloma	17550852	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
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17790000-17790600	Enhancers	Fetal Brain Male	brain
2	chr5:17794200-17795600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:17794400-17794800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr5:17794400-17795400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr5:17795000-17795200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr5:17796200-17797800	Enhancers	Hela-S3	cervix
7	chr5:17796400-17796600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:17796400-17796600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:17796400-17796600	Enhancers	Lung	lung
10	chr5:17796400-17796600	Enhancers	Spleen	Spleen
11	chr5:17796400-17797200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:17796400-17797400	Enhancers	A549	lung
13	chr5:17796400-17797600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:17796400-17797600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:17796400-17797600	Enhancers	NHEK	skin
16	chr5:17796400-17797800	Enhancers	HMEC	breast
17	chr5:17796600-17801800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:17796800-17797800	Enhancers	HUVEC	blood vessel
19	chr5:17797400-17797800	Flanking Active TSS	A549	lung
20	chr5:17797600-17802600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:17797800-17798200	Enhancers	A549	lung
22	chr5:17797800-17804000	Weak transcription	HMEC	breast
23	chr5:17798200-17801800	Weak transcription	A549	lung
24	chr5:17799400-17799800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr5:17801600-17802400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:17801800-17802000	Enhancers	A549	lung
27	chr5:17801800-17802200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:17801800-17802600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:17801800-17803000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:17801800-17803600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr5:17801800-17804200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:17802000-17802400	Weak transcription	A549	lung
33	chr5:17802000-17802600	Enhancers	Fetal Brain Male	brain
34	chr5:17802000-17803000	Enhancers	Brain Germinal Matrix	brain
35	chr5:17802000-17803200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr5:17802000-17803800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr5:17802200-17802600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:17802200-17802600	Enhancers	Fetal Lung	lung
39	chr5:17802200-17803000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr5:17802200-17803000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr5:17802200-17803200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr5:17802200-17803200	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr5:17802200-17803400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:17802200-17803800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:17802400-17802600	Enhancers	A549	lung
46	chr5:17802400-17802800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr5:17802400-17803000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr5:17802400-17803000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:17802400-17803000	Enhancers	H9 Cell Line	embryonic stem cell
50	chr5:17802400-17803000	Enhancers	Fetal Brain Female	brain

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