Variant report

Variant	nsv881014
Chromosome Location	chr5:29569175-29631637
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:93)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:93 , 50 per page) page: 1 2

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	chr5:29597920-29598079	HepG2	liver:	n/a	n/a
3	CEBPB	chr5:29587991-29588728	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr5:29630539-29630789	HepG2	liver:	n/a	n/a
5	CEBPB	chr5:29614349-29614730	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr5:29597260-29597410	HCPEpiC	choroid plexus:	n/a	n/a
7	CTCF	chr5:29604300-29604341	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr5:29600742-29600770	ProgFib	skin:	n/a	n/a
9	E2F4	chr5:29616472-29616776	MCF10A-Er-Src	breast:	n/a	n/a
10	EP300	chr5:29614493-29614560	GM12878	blood:	n/a	n/a
11	EP300	chr5:29617734-29617895	GM12878	blood:	n/a	n/a
12	EP300	chr5:29590439-29590517	K562	blood:	n/a	n/a
13	EP300	chr5:29595145-29595190	K562	blood:	n/a	n/a
14	EP300	chr5:29587974-29588741	Hela-S3	cervix:	n/a	n/a
15	EP300	chr5:29606680-29606775	K562	blood:	n/a	n/a
16	EP300	chr5:29614431-29614795	Hela-S3	cervix:	n/a	n/a
17	FOS	chr5:29588092-29588292	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr5:29614318-29614779	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr5:29614369-29614731	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr5:29588032-29588235	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr5:29587998-29588768	Hela-S3	cervix:	n/a	n/a
22	FOS	chr5:29614333-29614724	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr5:29614335-29614781	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr5:29588026-29588636	MCF10A-Er-Src	breast:	n/a	n/a
25	FOSL2	chr5:29587980-29588275	MCF-7	breast:	n/a	n/a
26	GATA3	chr5:29587914-29588292	MCF-7	breast:	n/a	n/a
27	JUN	chr5:29588921-29589044	H1-hESC	embryonic stem cell:	n/a	n/a
28	JUN	chr5:29587909-29588757	Hela-S3	cervix:	n/a	n/a
29	JUN	chr5:29570495-29570505	HepG2	liver:	n/a	n/a
30	JUN	chr5:29614461-29614561	HepG2	liver:	n/a	chr5:29614504-29614517
31	JUND	chr5:29629901-29629968	H1-hESC	embryonic stem cell:	n/a	n/a
32	JUND	chr5:29587921-29588732	Hela-S3	cervix:	n/a	n/a
33	JUND	chr5:29625360-29625551	HepG2	liver:	n/a	n/a
34	MAFF	chr5:29631384-29631581	HepG2	liver:	n/a	chr5:29631493-29631511
35	MAFK	chr5:29631406-29631606	HepG2	liver:	n/a	chr5:29631497-29631511
36	MAFK	chr5:29607681-29607767	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAFK	chr5:29625362-29625405	K562	blood:	n/a	n/a
38	MAFK	chr5:29629333-29629449	HepG2	liver:	n/a	n/a
39	MAFK	chr5:29631406-29631606	HepG2	liver:	n/a	chr5:29631497-29631511
40	MAFK	chr5:29586076-29586276	HepG2	liver:	n/a	n/a
41	MAX	chr5:29573145-29573234	NB4	blood:	n/a	n/a
42	MAZ	chr5:29599387-29599839	HepG2	liver:	n/a	n/a
43	MAZ	chr5:29609132-29609176	HepG2	liver:	n/a	n/a
44	MAZ	chr5:29587206-29587374	Hela-S3	cervix:	n/a	n/a
45	MYC	chr5:29593746-29593809	H1-hESC	embryonic stem cell:	n/a	n/a
46	MYC	chr5:29614411-29614644	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr5:29580937-29580997	ProgFib	skin:	n/a	n/a
48	POLR2A	chr5:29615453-29615652	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr5:29605005-29605065	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr5:29587462-29587474	A549	lung:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:29620035..29622604-chr5:29624083..29625819,2	K562	blood:
2	chr5:29615746..29618032-chr5:29623108..29625004,2	K562	blood:
3	chr16:27487589..27488219-chr5:29570534..29571280,2	MCF-7	breast:
4	chr16:89785981..89788099-chr5:29571782..29574694,2	MCF-7	breast:
5	chr5:29623807..29626845-chr5:29627046..29630345,3	MCF-7	breast:
6	chr5:29620035..29622604-chr5:29624083..29625819,2	K562	blood:
7	chr5:29623807..29626845-chr5:29627046..29630345,3	MCF-7	breast:
8	chr5:29615746..29618032-chr5:29623108..29625004,2	K562	blood:
9	chr5:29628564..29631486-chr5:29634106..29636111,2	MCF-7	breast:

No data

Variant related genes	Relation type
UBL5P1	TF binding region
ENSG00000077235	chromatin interactions
ENSG00000158805	chromatin interactions
ENSG00000075399	chromatin interactions

Extended variants
information (count: 481 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:481 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10061669	chr5:29569175-29569176	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114846831	chr5:29569176-29569177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577845177	chr5:29569201-29569202	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs556319592	chr5:29569220-29569221	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs6885444	chr5:29569248-29569249	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs527956882	chr5:29569353-29569354	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs17571587	chr5:29569364-29569365	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs11749390	chr5:29569377-29569378	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs189986378	chr5:29569428-29569429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201620000	chr5:29569463-29569464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113667263	chr5:29569464-29569465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370788872	chr5:29569465-29569466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs180738743	chr5:29569506-29569507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539003704	chr5:29569530-29569531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139479173	chr5:29569552-29569553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75169033	chr5:29569582-29569583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149665163	chr5:29569618-29569619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554443688	chr5:29569631-29569632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573805450	chr5:29569637-29569638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576145930	chr5:29569716-29569717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556177305	chr5:29569807-29569808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368052990	chr5:29569817-29569818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201977213	chr5:29569842-29569843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564987817	chr5:29569860-29569861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576891915	chr5:29569888-29569889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34374924	chr5:29569905-29569906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187406217	chr5:29569920-29569921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541145219	chr5:29569935-29569936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559364991	chr5:29569969-29569970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529717426	chr5:29570004-29570005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114422772	chr5:29570006-29570007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549658075	chr5:29570044-29570045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561611894	chr5:29570085-29570086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74736198	chr5:29570109-29570110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74615587	chr5:29570169-29570170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191821497	chr5:29570196-29570197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs17634115	chr5:29570198-29570199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368874433	chr5:29570201-29570202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573683278	chr5:29570247-29570248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184013923	chr5:29570275-29570276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538722154	chr5:29570296-29570297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547505253	chr5:29570299-29570300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565688501	chr5:29570305-29570306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536252716	chr5:29570374-29570375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554433543	chr5:29570386-29570387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6890975	chr5:29570398-29570399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs116530121	chr5:29570407-29570408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73750487	chr5:29570470-29570471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142206431	chr5:29570489-29570490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs3925375	chr5:29570528-29570529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29567600-29569800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr5:29568800-29569200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:29569200-29569400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:29569400-29570200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:29569800-29570800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:29570200-29571200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:29570800-29572400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:29571200-29571400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:29571400-29571600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:29571600-29571800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:29571800-29572000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:29572000-29572200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:29587200-29589400	Enhancers	Hela-S3	cervix
14	chr5:29602800-29603600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:29613600-29614200	Enhancers	Hela-S3	cervix
16	chr5:29614200-29614600	Weak transcription	Hela-S3	cervix
17	chr5:29614600-29615200	Enhancers	Hela-S3	cervix

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