Variant report

Variant	nsv1032267
Chromosome Location	chr5:17730304-17771787
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	chr5:17737382..17739045-chr5:17741320..17743486,2	K562	blood:
2	chr5:17737382..17739045-chr5:17741320..17743486,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BASP1-7	chr5:17769003-17769093	NONHSAT100665
2	lnc-BASP1-7	chr5:17769003-17769093	ENSG00000249937

Extended variants
information (count: 1051 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1051 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6450962	chr5:17730304-17730305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs75146367	chr5:17730333-17730334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540791321	chr5:17730387-17730388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559269871	chr5:17730388-17730389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35201170	chr5:17730404-17730405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377290332	chr5:17730426-17730427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34753928	chr5:17730437-17730438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564243086	chr5:17730467-17730468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533204032	chr5:17730480-17730481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188216631	chr5:17730507-17730508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs193271605	chr5:17730529-17730530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140436198	chr5:17730563-17730564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1399485	chr5:17730594-17730595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549529273	chr5:17730596-17730597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566164877	chr5:17730614-17730615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535249298	chr5:17730630-17730631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541626746	chr5:17730632-17730633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544841410	chr5:17730647-17730648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559932149	chr5:17730694-17730695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571850461	chr5:17730706-17730707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537788775	chr5:17730739-17730740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557366712	chr5:17730748-17730749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145558489	chr5:17730761-17730762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530224038	chr5:17730762-17730763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564886913	chr5:17730799-17730800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555057367	chr5:17730827-17730828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185456897	chr5:17730905-17730906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540868608	chr5:17730973-17730974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563223137	chr5:17730991-17730992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149427612	chr5:17730996-17730997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564263110	chr5:17731013-17731014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577756268	chr5:17731090-17731091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114827366	chr5:17731110-17731111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563415392	chr5:17731134-17731135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529342206	chr5:17731223-17731224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs59145639	chr5:17731227-17731228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs559909656	chr5:17731258-17731259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528549500	chr5:17731264-17731265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542530679	chr5:17731280-17731281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551692762	chr5:17731284-17731285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188271473	chr5:17731303-17731304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537225514	chr5:17731305-17731306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551290624	chr5:17731308-17731309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567584334	chr5:17731361-17731362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11955299	chr5:17731387-17731388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs554893540	chr5:17731420-17731421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11953245	chr5:17731427-17731428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs62348899	chr5:17731475-17731476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17494237	chr5:17731492-17731493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs577798030	chr5:17731541-17731542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17728200-17732000	Weak transcription	Hela-S3	cervix
2	chr5:17731600-17733400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:17732000-17733000	Enhancers	Hela-S3	cervix
4	chr5:17733400-17738000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:17733600-17734600	Enhancers	Fetal Lung	lung
6	chr5:17735400-17736800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr5:17736800-17739600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr5:17738000-17739600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:17738400-17739200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:17738600-17739000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr5:17739600-17740400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr5:17743200-17743600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:17743200-17743600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:17743200-17743600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:17743400-17743600	Enhancers	NH-A	brain
16	chr5:17743400-17743800	Enhancers	Aorta	Aorta
17	chr5:17743400-17743800	Enhancers	Osteobl	bone
18	chr5:17743400-17744200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:17743400-17744400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:17743600-17743800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:17743600-17743800	Enhancers	A549	lung
22	chr5:17743600-17744000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:17743600-17744200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:17743600-17744400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:17743600-17744600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:17743600-17744600	Enhancers	Hela-S3	cervix
27	chr5:17743600-17744600	Flanking Active TSS	NH-A	brain
28	chr5:17743800-17744000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:17743800-17744000	Active TSS	Aorta	Aorta
30	chr5:17743800-17744000	Flanking Active TSS	Osteobl	bone
31	chr5:17743800-17744200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:17743800-17744400	Flanking Active TSS	A549	lung
33	chr5:17744000-17744200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:17744000-17744200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:17744000-17744200	Flanking Active TSS	Aorta	Aorta
36	chr5:17744000-17744600	Active TSS	Osteobl	bone
37	chr5:17744200-17744400	Active TSS	Aorta	Aorta
38	chr5:17744200-17744600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:17744200-17744600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:17744400-17745000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:17744400-17748400	Weak transcription	A549	lung
42	chr5:17744600-17745000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:17744600-17745200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:17744600-17745200	Enhancers	NH-A	brain
45	chr5:17747400-17749400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr5:17747800-17748800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:17748200-17748400	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr5:17748200-17749400	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr5:17748400-17748800	Enhancers	A549	lung
50	chr5:17748400-17749400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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