Variant report

Variant	nsv596942
Chromosome Location	chr5:5511990-5722063
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:48)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:5576350..5579017-chr5:5589220..5591369,2	K562	blood:
2	chr5:5577605..5579271-chr5:5583777..5585881,2	K562	blood:
3	chr5:5684088..5686741-chr5:5688588..5690353,2	K562	blood:
4	chr5:5598174..5601240-chr5:5601251..5604925,4	K562	blood:
5	chr5:5578308..5580518-chr5:5710982..5713776,2	K562	blood:
6	chr5:5598244..5601224-chr5:5601265..5606394,4	K562	blood:
7	chr5:5503345..5507933-chr5:5508624..5513439,4	K562	blood:
8	chr5:5671215..5673289-chr5:5674552..5676413,2	K562	blood:
9	chr5:5577605..5579271-chr5:5583777..5585881,2	K562	blood:
10	chr5:5557380..5560110-chr5:5562325..5564045,2	MCF-7	breast:
11	chr5:5570734..5572543-chr5:5574723..5577071,2	K562	blood:
12	chr5:5560140..5563103-chr5:5563381..5565728,2	K562	blood:
13	chr5:5531429..5533895-chr5:5542194..5543799,2	K562	blood:
14	chr5:5587048..5591139-chr5:5592900..5595202,3	K562	blood:
15	chr5:5531429..5533895-chr5:5542194..5543799,2	K562	blood:
16	chr5:5647329..5649271-chr5:5651297..5654251,2	K562	blood:
17	chr5:5643538..5645836-chr5:5656752..5659713,2	MCF-7	breast:
18	chr5:5633637..5636069-chr5:5639786..5641876,2	K562	blood:
19	chr5:5557380..5560110-chr5:5562325..5564045,2	MCF-7	breast:
20	chr5:5634330..5637073-chr5:5649002..5650967,2	MCF-7	breast:
21	chr5:5573897..5575784-chr5:5576123..5578301,2	K562	blood:
22	chr5:5503345..5507933-chr5:5508624..5513984,5	K562	blood:
23	chr5:5531394..5534374-chr5:5535145..5537717,2	K562	blood:
24	chr5:5597659..5599533-chr5:5606675..5608645,2	K562	blood:
25	chr5:5628233..5630070-chr5:5633893..5637013,3	K562	blood:
26	chr5:5578308..5580518-chr5:5710982..5713776,2	K562	blood:
27	chr5:5663207..5664772-chr5:5667196..5668796,2	K562	blood:
28	chr5:5587048..5591139-chr5:5592900..5595202,3	K562	blood:
29	chr5:5633637..5636069-chr5:5639786..5641876,2	K562	blood:
30	chr5:5634330..5637073-chr5:5649002..5650967,2	MCF-7	breast:
31	chr5:5702936..5705705-chr5:5707193..5708866,2	K562	blood:
32	chr5:5570734..5572543-chr5:5574723..5577071,2	K562	blood:
33	chr5:5721232..5723424-chr5:5729526..5731351,2	MCF-7	breast:
34	chr5:5573897..5575784-chr5:5576123..5578301,2	K562	blood:
35	chr5:5573344..5575674-chr5:6222542..6224830,2	MCF-7	breast:
36	chr5:5576350..5579017-chr5:5589220..5591369,2	K562	blood:
37	chr5:5531394..5534374-chr5:5535145..5537717,2	K562	blood:
38	chr5:5643538..5645836-chr5:5656752..5659713,2	MCF-7	breast:
39	chr5:5597659..5599533-chr5:5606675..5608645,2	K562	blood:
40	chr5:5663207..5664772-chr5:5667196..5668796,2	K562	blood:
41	chr5:5684088..5686741-chr5:5688588..5690353,2	K562	blood:
42	chr5:5671215..5673289-chr5:5674552..5676413,2	K562	blood:
43	chr5:5702936..5705705-chr5:5707193..5708866,2	K562	blood:
44	chr5:5647329..5649271-chr5:5651297..5654251,2	K562	blood:
45	chr5:5628233..5630070-chr5:5633893..5637013,3	K562	blood:
46	chr5:5560140..5563103-chr5:5563381..5565728,2	K562	blood:
47	chr5:5598174..5601240-chr5:5601251..5604925,4	K562	blood:
48	chr5:5598244..5601224-chr5:5601265..5606394,4	K562	blood:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0947-1	chr5:5693727-5693858	XLOC_004270
2	lnc-KIAA0947-1	chr5:5688511-5688657	XLOC_004270
3	lnc-KIAA0947-1	chr5:5694859-5694969	XLOC_004270
4	lnc-KIAA0947-1	chr5:5699273-5701975	XLOC_004270
5	lnc-MED10-14	chr5:5517459-5517638	NONHSAT100179
6	lnc-KIAA0947-1	chr5:5694139-5694618	XLOC_004270
7	lnc-KIAA0947-1	chr5:5688511-5688967	XLOC_004270
8	lnc-KIAA0947-2	chr5:5584434-5584471	NONHSAT100180
9	lnc-KIAA0947-1	chr5:5688789-5688967	XLOC_004270
10	lnc-KIAA0947-1	chr5:5693727-5693858	XLOC_004270
11	lnc-KIAA0947-1	chr5:5688788-5688967	NONHSAT100183
12	lnc-KIAA0947-2	chr5:5583421-5583777	NONHSAT100180
13	lnc-MED10-14	chr5:5518754-5518840	NONHSAT100179
14	lnc-KIAA0947-1	chr5:5688815-5688967	XLOC_004270
15	lnc-KIAA0947-1	chr5:5694139-5694840	XLOC_004270
16	lnc-KIAA0947-1	chr5:5693726-5693858	NONHSAT100183
17	lnc-KIAA0947-1	chr5:5694138-5694618	NONHSAT100183
18	lnc-KIAA0947-1	chr5:5693727-5693858	XLOC_004270

No data

Variant related genes	Relation type
PLS1	miRNA target sites
PLXNA1	miRNA target sites
PLSCR4	miRNA target sites

Extended variants
information (count: 8661 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:8661 , 50 per page) page: 1 2 3 4 5 6 7 ... 174

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs252928	chr5:5511990-5511991	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551575242	chr5:5512014-5512015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571756456	chr5:5512045-5512046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371332666	chr5:5512046-5512047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182932559	chr5:5512068-5512069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373781153	chr5:5512081-5512082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190942329	chr5:5512103-5512104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553781969	chr5:5512115-5512116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373867686	chr5:5512134-5512135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565509177	chr5:5512135-5512136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143763396	chr5:5512136-5512137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28390199	chr5:5512217-5512218	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs554923297	chr5:5512233-5512234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs183549395	chr5:5512244-5512245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs576554153	chr5:5512247-5512248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs185906867	chr5:5512277-5512278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs190870607	chr5:5512293-5512294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs6555359	chr5:5512298-5512299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs182582360	chr5:5512344-5512345	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs372335233	chr5:5512346-5512347	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs558593874	chr5:5512377-5512378	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs376672316	chr5:5512381-5512382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs576758226	chr5:5512394-5512395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs370571742	chr5:5514428-5514429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543907903	chr5:5514435-5514436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143916846	chr5:5514451-5514452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532532155	chr5:5514452-5514453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375021772	chr5:5514471-5514472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552629534	chr5:5514483-5514484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146833074	chr5:5514515-5514516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111557121	chr5:5514516-5514517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2652715	chr5:5514517-5514518	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs568641168	chr5:5514528-5514529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140669318	chr5:5514564-5514565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112398349	chr5:5514568-5514569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569679645	chr5:5514579-5514580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577472912	chr5:5514597-5514598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376531207	chr5:5514657-5514658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371020070	chr5:5514684-5514685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181626955	chr5:5514685-5514686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573157422	chr5:5514701-5514702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144442468	chr5:5514735-5514736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201580061	chr5:5514747-5514748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541517450	chr5:5514758-5514759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553187235	chr5:5514786-5514787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs386684977	chr5:5514794-5514795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530420523	chr5:5516625-5516626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs550586918	chr5:5516663-5516664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs571104608	chr5:5516674-5516675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs564339728	chr5:5516735-5516736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD

Chromatin state (count:767 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5510000-5512200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:5512200-5512400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:5514400-5514800	Enhancers	Adipose Nuclei	Adipose
4	chr5:5516600-5517000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
5	chr5:5516800-5517200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr5:5517000-5517200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
7	chr5:5517000-5518000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr5:5517200-5520400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:5517200-5521200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:5518000-5521200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:5520400-5520800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:5520400-5522400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:5520400-5523000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:5520400-5523200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:5520400-5523400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr5:5520600-5521400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr5:5520800-5521000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr5:5521000-5524000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr5:5521200-5521400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr5:5521200-5521400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:5521200-5521600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr5:5521200-5521800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr5:5521200-5522600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr5:5521200-5523600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:5521400-5521600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr5:5521400-5523800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:5521400-5539200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:5521600-5521800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr5:5521600-5524000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:5521800-5523400	Enhancers	H9 Cell Line	embryonic stem cell
31	chr5:5522200-5522400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:5522200-5523400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:5522400-5522600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr5:5522400-5524400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:5522600-5522800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr5:5522800-5523000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr5:5522800-5523000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr5:5523000-5523400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr5:5523200-5523600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr5:5523200-5523600	Enhancers	Dnd41	blood
41	chr5:5523200-5524400	Enhancers	Primary T cells fromperipheralblood	blood
42	chr5:5523400-5523600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr5:5523400-5523600	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr5:5523400-5523600	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr5:5523400-5523600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:5523400-5523600	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr5:5523400-5523600	Enhancers	Liver	Liver
48	chr5:5523400-5523800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr5:5523400-5523800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:5523400-5523800	Active TSS	Duodenum Mucosa	Duodenum

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