Variant report

Variant	nsv596943
Chromosome Location	chr5:5533625-5672577
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:39)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

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

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0947-2	chr5:5583421-5583777	NONHSAT100180
2	lnc-KIAA0947-2	chr5:5584434-5584471	NONHSAT100180

No data

Extended variants
information (count: 5967 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:5967 , 50 per page) page: 1 2 3 4 5 6 7 ... 120

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2591699	chr5:5533625-5533626	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560244994	chr5:5533642-5533643	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs529213557	chr5:5533646-5533647	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs147739429	chr5:5533672-5533673	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs563152957	chr5:5533690-5533691	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs376048072	chr5:5533693-5533694	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs531923844	chr5:5533700-5533701	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs112073855	chr5:5533736-5533737	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs76056576	chr5:5533758-5533759	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs142661066	chr5:5533759-5533760	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs527916584	chr5:5533773-5533774	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs559035636	chr5:5533774-5533775	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs546703486	chr5:5533840-5533841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566589002	chr5:5533845-5533846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201535255	chr5:5533857-5533858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376931288	chr5:5533862-5533863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540242785	chr5:5533889-5533890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535415372	chr5:5533898-5533899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183360724	chr5:5533961-5533962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548711540	chr5:5533978-5533979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577286412	chr5:5534026-5534027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535083136	chr5:5534041-5534042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549002714	chr5:5534043-5534044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377024712	chr5:5534051-5534052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150236397	chr5:5534067-5534068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533751234	chr5:5534069-5534070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2591698	chr5:5534081-5534082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs573801653	chr5:5534106-5534107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74789504	chr5:5534171-5534172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562732257	chr5:5534182-5534183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576432063	chr5:5534207-5534208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112263177	chr5:5534246-5534247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200360304	chr5:5534261-5534262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545354721	chr5:5534263-5534264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565612220	chr5:5534269-5534270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138902681	chr5:5534283-5534284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188767007	chr5:5534288-5534289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112757385	chr5:5534294-5534295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528987635	chr5:5534323-5534324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549108585	chr5:5534347-5534348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568737772	chr5:5534355-5534356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114370148	chr5:5534358-5534359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114180961	chr5:5534377-5534378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2246106	chr5:5534383-5534384	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs552199028	chr5:5534420-5534421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543231367	chr5:5534446-5534447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143083244	chr5:5534447-5534448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191955538	chr5:5534456-5534457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2246112	chr5:5534459-5534460	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs140297394	chr5:5534510-5534511	Weak transcription Enhancers	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:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5521400-5539200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:5533400-5533800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:5533400-5533800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr5:5533800-5535600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:5534200-5534600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:5534600-5535600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:5534800-5535000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:5534800-5535200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:5535200-5539400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:5535400-5536000	Bivalent/Poised TSS	Hela-S3	cervix
11	chr5:5535600-5536200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:5535600-5537000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:5536200-5536800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:5536200-5537000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
15	chr5:5536200-5537000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:5536400-5536600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr5:5536400-5536600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr5:5536400-5537000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:5536400-5538200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr5:5536600-5537000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:5536600-5539200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:5537000-5539400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:5537000-5539800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:5537400-5537600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:5539200-5539400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr5:5539200-5539400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:5539200-5540000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr5:5539200-5540000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr5:5539200-5540200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:5539400-5539600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr5:5539400-5540000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:5539400-5540200	Enhancers	H9 Cell Line	embryonic stem cell
33	chr5:5539400-5540600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:5539600-5540000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr5:5539800-5540000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr5:5539800-5540200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr5:5539800-5540200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr5:5540000-5540200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr5:5540000-5540200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr5:5540000-5542400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr5:5540000-5542600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr5:5540200-5542600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr5:5540200-5542800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr5:5540200-5542800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr5:5540400-5542800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr5:5540600-5543400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:5542400-5543600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr5:5542600-5543200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr5:5542600-5543600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr5:5542600-5543800	Enhancers	HUES64 Cell Line	embryonic stem cell

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