Variant report

Variant	nsv818341
Chromosome Location	chr5:29596136-29620270
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:29597920-29598079	HepG2	liver:	n/a	n/a
2	CEBPB	chr5:29614349-29614730	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr5:29600742-29600770	ProgFib	skin:	n/a	n/a
4	CTCF	chr5:29597260-29597410	HCPEpiC	choroid plexus:	n/a	n/a
5	CTCF	chr5:29604300-29604341	Kidney_OC	kidney:	n/a	n/a
6	E2F4	chr5:29616472-29616776	MCF10A-Er-Src	breast:	n/a	n/a
7	EP300	chr5:29614493-29614560	GM12878	blood:	n/a	n/a
8	EP300	chr5:29617734-29617895	GM12878	blood:	n/a	n/a
9	EP300	chr5:29614431-29614795	Hela-S3	cervix:	n/a	n/a
10	EP300	chr5:29606680-29606775	K562	blood:	n/a	n/a
11	FOS	chr5:29614335-29614781	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr5:29614318-29614779	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr5:29614333-29614724	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr5:29614369-29614731	MCF10A-Er-Src	breast:	n/a	n/a
15	JUN	chr5:29614461-29614561	HepG2	liver:	n/a	chr5:29614504-29614517
16	MAFK	chr5:29607681-29607767	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAZ	chr5:29599387-29599839	HepG2	liver:	n/a	n/a
18	MAZ	chr5:29609132-29609176	HepG2	liver:	n/a	n/a
19	MYC	chr5:29614411-29614644	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr5:29603462-29603585	MCF-7	breast:	n/a	n/a
21	POLR2A	chr5:29616954-29617127	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr5:29611791-29611823	ProgFib	skin:	n/a	n/a
23	POLR2A	chr5:29601279-29601513	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr5:29605005-29605065	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr5:29600721-29600889	Gliobla	brain:	n/a	n/a
26	POLR2A	chr5:29615453-29615652	MCF10A-Er-Src	breast:	n/a	n/a
27	RCOR1	chr5:29614455-29614482	Hela-S3	cervix:	n/a	n/a
28	RFX5	chr5:29605368-29605428	K562	blood:	n/a	n/a
29	RFX5	chr5:29608633-29608634	K562	blood:	n/a	n/a
30	RFX5	chr5:29612423-29612498	K562	blood:	n/a	n/a
31	SPI1	chr5:29599069-29599459	HL-60	blood:	n/a	n/a
32	STAT3	chr5:29617663-29617779	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr5:29609541-29609711	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr5:29602067-29602068	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr5:29614368-29614618	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr5:29618726-29618812	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr5:29614351-29614718	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr5:29614314-29614717	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr5:29614349-29614784	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr5:29607539-29607739	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr5:29600521-29600592	MCF10A-Er-Src	breast:	n/a	n/a
42	ZNF143	chr5:29603432-29603619	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:29620035..29622604-chr5:29624083..29625819,2	K562	blood:
2	chr5:29615746..29618032-chr5:29623108..29625004,2	K562	blood:

Variant related genes	Relation type
UBL5P1	TF binding region

Extended variants
information (count: 162 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191007522	chr5:29597271-29597272	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs62353481	chr5:29597291-29597292	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs181218191	chr5:29597296-29597297	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs114129904	chr5:29597304-29597305	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs575849479	chr5:29597305-29597306	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs78408545	chr5:29597321-29597322	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs35493633	chr5:29597346-29597347	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs546558338	chr5:29597348-29597349	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs564664771	chr5:29597355-29597356	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs571316653	chr5:29597394-29597395	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs9784718	chr5:29597954-29597955	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs551246439	chr5:29597957-29597958	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs566396305	chr5:29597993-29597994	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs183526442	chr5:29598008-29598009	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs138245067	chr5:29598052-29598053	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs549117209	chr5:29598066-29598067	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs144190699	chr5:29599094-29599095	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs115928145	chr5:29599102-29599103	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs147760659	chr5:29599121-29599122	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs547561486	chr5:29599132-29599133	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs565658927	chr5:29599151-29599152	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs140394570	chr5:29599152-29599153	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs116125056	chr5:29599166-29599167	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs548185831	chr5:29599178-29599179	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs111702469	chr5:29599182-29599183	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs186771131	chr5:29599183-29599184	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs191141008	chr5:29599223-29599224	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs185772707	chr5:29599243-29599244	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs75034253	chr5:29599246-29599247	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs563451851	chr5:29599278-29599279	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs190197244	chr5:29599281-29599282	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs532410334	chr5:29599283-29599284	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs145024256	chr5:29599299-29599300	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs79476697	chr5:29599317-29599318	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs375499788	chr5:29599331-29599332	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs528238836	chr5:29599336-29599337	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs368735350	chr5:29599354-29599355	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs543779046	chr5:29599361-29599362	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs201253786	chr5:29599363-29599364	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs565070406	chr5:29599373-29599374	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs532374282	chr5:29599490-29599491	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs532239260	chr5:29599504-29599505	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs149080221	chr5:29599524-29599525	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs115336908	chr5:29599525-29599526	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs115659696	chr5:29599564-29599565	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs116373252	chr5:29599576-29599577	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs138310011	chr5:29599592-29599593	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs548300120	chr5:29599593-29599594	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs569645295	chr5:29599606-29599607	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs12659088	chr5:29599656-29599657	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29602800-29603600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:29613600-29614200	Enhancers	Hela-S3	cervix
3	chr5:29614200-29614600	Weak transcription	Hela-S3	cervix
4	chr5:29614600-29615200	Enhancers	Hela-S3	cervix

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