Variant report

Variant	nsv10673
Chromosome Location	chr5:17457191-17473214
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:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:17463203..17464706-chr5:17470171..17472480,2	MCF-7	breast:
2	chr5:17463203..17464706-chr5:17470171..17472480,2	MCF-7	breast:
3	chr5:17448288..17450803-chr5:17469886..17472287,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BASP1-11	chr5:17465001-17465207	l_2885_chr5:17456969-17494846_brain
2	lnc-BASP1-11	chr5:17457474-17457838	l_2885_chr5:17456969-17494846_brain
3	lnc-BASP1-11	chr5:17456970-17457429	l_2885_chr5:17456969-17494846_brain

No data

Extended variants
information (count: 333 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149782886	chr5:17457195-17457196	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs188624462	chr5:17457201-17457202	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs527324822	chr5:17457223-17457224	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs4318775	chr5:17457266-17457267	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs561486121	chr5:17457269-17457270	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs77598561	chr5:17457270-17457271	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs547216751	chr5:17457276-17457277	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs75225364	chr5:17457327-17457328	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs4612067	chr5:17457345-17457346	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs146290648	chr5:17457366-17457367	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs535523281	chr5:17457367-17457368	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs139973517	chr5:17457370-17457371	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs192721764	chr5:17457507-17457508	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs535217393	chr5:17457510-17457511	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs143453590	chr5:17457511-17457512	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs115179758	chr5:17457544-17457545	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs184205966	chr5:17457545-17457546	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs188328819	chr5:17457560-17457561	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs557380831	chr5:17457569-17457570	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs575979901	chr5:17457581-17457582	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs545877687	chr5:17457608-17457609	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs146730097	chr5:17457636-17457637	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs563976769	chr5:17457671-17457672	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs540740193	chr5:17457682-17457683	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs563907960	chr5:17457759-17457760	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs532983340	chr5:17457775-17457776	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs9686712	chr5:17457783-17457784	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs7724712	chr5:17457833-17457834	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs148053807	chr5:17457840-17457841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35171297	chr5:17457841-17457842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs28619213	chr5:17457842-17457843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10053074	chr5:17457890-17457891	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs563482863	chr5:17457909-17457910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531443076	chr5:17458038-17458039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529268347	chr5:17458080-17458081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563806812	chr5:17458154-17458155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74778233	chr5:17458231-17458232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549435492	chr5:17458266-17458267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566095446	chr5:17458281-17458282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535093175	chr5:17458314-17458315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559712894	chr5:17458315-17458316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10076890	chr5:17458356-17458357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551909180	chr5:17458367-17458368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2459796	chr5:17458373-17458374	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs142603729	chr5:17458464-17458465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114454790	chr5:17458465-17458466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550859069	chr5:17458467-17458468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570739423	chr5:17458483-17458484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10462745	chr5:17458538-17458539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs34209374	chr5:17458540-17458541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Autism	19287141	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17430800-17463800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:17456200-17457600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:17456200-17458400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr5:17458400-17459800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr5:17459800-17461200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr5:17461200-17461600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr5:17461600-17462000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr5:17462000-17462200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr5:17462200-17464400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr5:17463800-17464200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:17463800-17464400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:17463800-17464400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:17463800-17464400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:17463800-17464400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:17464000-17464400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:17464000-17464400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:17464000-17464400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:17465800-17466600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:17469400-17470000	Enhancers	Rectal Mucosa Donor 31	rectum

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