Variant report

Variant	nsv880307
Chromosome Location	chr5:29588169-29671461
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:105)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:105 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr5:29587962-29588174	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr5:29656671-29656711	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr5:29630539-29630789	HepG2	liver:	n/a	n/a
4	CEBPB	chr5:29587991-29588728	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr5:29614349-29614730	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr5:29597920-29598079	HepG2	liver:	n/a	n/a
7	CTCF	chr5:29659799-29659853	GM20000	blood:	n/a	n/a
8	CTCF	chr5:29639978-29639998	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr5:29597260-29597410	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chr5:29656019-29656056	Lung_OC	lung:	n/a	n/a
11	CTCF	chr5:29648078-29648185	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr5:29604300-29604341	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr5:29600742-29600770	ProgFib	skin:	n/a	n/a
14	E2F4	chr5:29616472-29616776	MCF10A-Er-Src	breast:	n/a	n/a
15	EBF1	chr5:29670744-29670946	GM12878	blood:	n/a	chr5:29670838-29670849
16	EP300	chr5:29595145-29595190	K562	blood:	n/a	n/a
17	EP300	chr5:29614431-29614795	Hela-S3	cervix:	n/a	n/a
18	EP300	chr5:29590439-29590517	K562	blood:	n/a	n/a
19	EP300	chr5:29614493-29614560	GM12878	blood:	n/a	n/a
20	EP300	chr5:29587974-29588741	Hela-S3	cervix:	n/a	n/a
21	EP300	chr5:29617734-29617895	GM12878	blood:	n/a	n/a
22	EP300	chr5:29606680-29606775	K562	blood:	n/a	n/a
23	FOS	chr5:29588092-29588292	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr5:29614318-29614779	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr5:29588026-29588636	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr5:29614369-29614731	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr5:29588032-29588235	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr5:29614335-29614781	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr5:29614333-29614724	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr5:29587998-29588768	Hela-S3	cervix:	n/a	n/a
31	FOSL2	chr5:29587980-29588275	MCF-7	breast:	n/a	n/a
32	GATA3	chr5:29587914-29588292	MCF-7	breast:	n/a	n/a
33	JUN	chr5:29588921-29589044	H1-hESC	embryonic stem cell:	n/a	n/a
34	JUN	chr5:29671403-29671594	K562	blood:	n/a	n/a
35	JUN	chr5:29614461-29614561	HepG2	liver:	n/a	chr5:29614504-29614517
36	JUN	chr5:29661750-29661809	K562	blood:	n/a	n/a
37	JUN	chr5:29587909-29588757	Hela-S3	cervix:	n/a	n/a
38	JUND	chr5:29649567-29649744	HepG2	liver:	n/a	chr5:29649731-29649740
39	JUND	chr5:29625360-29625551	HepG2	liver:	n/a	n/a
40	JUND	chr5:29635572-29635730	HepG2	liver:	n/a	n/a
41	JUND	chr5:29587921-29588732	Hela-S3	cervix:	n/a	n/a
42	JUND	chr5:29629901-29629968	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAFF	chr5:29631384-29631581	HepG2	liver:	n/a	chr5:29631493-29631511
44	MAFK	chr5:29631406-29631606	HepG2	liver:	n/a	chr5:29631497-29631511
45	MAFK	chr5:29629333-29629449	HepG2	liver:	n/a	n/a
46	MAFK	chr5:29607681-29607767	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAFK	chr5:29656584-29656695	IMR90	lung:	n/a	n/a
48	MAFK	chr5:29663442-29663650	HepG2	liver:	n/a	n/a
49	MAFK	chr5:29650960-29651215	HepG2	liver:	n/a	chr5:29651060-29651075
50	MAFK	chr5:29650922-29651215	HepG2	liver:	n/a	chr5:29651060-29651075

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:29623807..29626845-chr5:29627046..29630345,3	MCF-7	breast:
2	chr5:29623807..29626845-chr5:29627046..29630345,3	MCF-7	breast:
3	chr5:29620035..29622604-chr5:29624083..29625819,2	K562	blood:
4	chr5:29615746..29618032-chr5:29623108..29625004,2	K562	blood:
5	chr5:29620035..29622604-chr5:29624083..29625819,2	K562	blood:
6	chr5:29628564..29631486-chr5:29634106..29636111,2	MCF-7	breast:
7	chr5:29615746..29618032-chr5:29623108..29625004,2	K562	blood:
8	chr5:29628564..29631486-chr5:29634106..29636111,2	MCF-7	breast:

No data

Variant related genes	Relation type
UBL5P1	TF binding region

Extended variants
information (count: 296 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4587088	chr5:29588169-29588170	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113558628	chr5:29588207-29588208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554747878	chr5:29588279-29588280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576105683	chr5:29588293-29588294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537071891	chr5:29588309-29588310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556563832	chr5:29588314-29588315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184250080	chr5:29588326-29588327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545437586	chr5:29588333-29588334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376485096	chr5:29588343-29588344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116574054	chr5:29588363-29588364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7724463	chr5:29588404-29588405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572343642	chr5:29588431-29588432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542709073	chr5:29588466-29588467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561074280	chr5:29588468-29588469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs55812921	chr5:29588526-29588527	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs140072027	chr5:29588529-29588530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533309608	chr5:29588635-29588636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543202863	chr5:29588640-29588641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188486351	chr5:29588681-29588682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111256234	chr5:29588682-29588683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565861257	chr5:29588693-29588694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72755503	chr5:29588735-29588736	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs150389182	chr5:29588753-29588754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570059580	chr5:29588763-29588764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs180883777	chr5:29588780-29588781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186236292	chr5:29588786-29588787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189171297	chr5:29588812-29588813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570361688	chr5:29588818-29588819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539308368	chr5:29588834-29588835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554214348	chr5:29588876-29588877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538193135	chr5:29588898-29588899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529332744	chr5:29588921-29588922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182508372	chr5:29588932-29588933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542844155	chr5:29588935-29588936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12186462	chr5:29588948-29588949	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs576098321	chr5:29588958-29588959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543553676	chr5:29588990-29588991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565244789	chr5:29589000-29589001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138198569	chr5:29589047-29589048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541318533	chr5:29589058-29589059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369783334	chr5:29589071-29589072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186203138	chr5:29589098-29589099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529900317	chr5:29589100-29589101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143692465	chr5:29589139-29589140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs80229780	chr5:29589159-29589160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373144656	chr5:29589186-29589187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs71593809	chr5:29589217-29589218	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs532636741	chr5:29589223-29589224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35436960	chr5:29589224-29589225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs398108761	chr5:29589236-29589237	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29587200-29589400	Enhancers	Hela-S3	cervix
2	chr5:29602800-29603600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:29613600-29614200	Enhancers	Hela-S3	cervix
4	chr5:29614200-29614600	Weak transcription	Hela-S3	cervix
5	chr5:29614600-29615200	Enhancers	Hela-S3	cervix
6	chr5:29633400-29634000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr5:29633400-29634200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:29634800-29635400	Enhancers	Brain Hippocampus Middle	brain
9	chr5:29635000-29635200	Enhancers	Brain Substantia Nigra	brain
10	chr5:29635200-29635600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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