Variant report

Variant	esv3377512
Chromosome Location	chr5:29600244-29626114
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:29614349-29614730	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr5:29600742-29600770	ProgFib	skin:	n/a	n/a
3	CTCF	chr5:29604300-29604341	Kidney_OC	kidney:	n/a	n/a
4	E2F4	chr5:29616472-29616776	MCF10A-Er-Src	breast:	n/a	n/a
5	EP300	chr5:29614493-29614560	GM12878	blood:	n/a	n/a
6	EP300	chr5:29606680-29606775	K562	blood:	n/a	n/a
7	EP300	chr5:29614431-29614795	Hela-S3	cervix:	n/a	n/a
8	EP300	chr5:29617734-29617895	GM12878	blood:	n/a	n/a
9	FOS	chr5:29614318-29614779	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr5:29614335-29614781	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr5:29614369-29614731	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr5:29614333-29614724	MCF10A-Er-Src	breast:	n/a	n/a
13	JUN	chr5:29614461-29614561	HepG2	liver:	n/a	chr5:29614504-29614517
14	JUND	chr5:29625360-29625551	HepG2	liver:	n/a	n/a
15	MAFK	chr5:29625362-29625405	K562	blood:	n/a	n/a
16	MAFK	chr5:29607681-29607767	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAZ	chr5:29609132-29609176	HepG2	liver:	n/a	n/a
18	MYC	chr5:29614411-29614644	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr5:29605005-29605065	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr5:29600721-29600889	Gliobla	brain:	n/a	n/a
21	POLR2A	chr5:29625113-29625150	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr5:29615453-29615652	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr5:29616954-29617127	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr5:29603462-29603585	MCF-7	breast:	n/a	n/a
25	POLR2A	chr5:29611791-29611823	ProgFib	skin:	n/a	n/a
26	POLR2A	chr5:29601279-29601513	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	STAT3	chr5:29614351-29614718	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr5:29618726-29618812	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr5:29614368-29614618	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr5:29625992-29626192	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr5:29614349-29614784	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr5:29609541-29609711	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr5:29614314-29614717	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr5:29617663-29617779	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr5:29602067-29602068	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 data

(count:5 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
UBL5P1	TF binding region

Extended variants
information (count: 109 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144993699	chr5:29600529-29600530	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs541949937	chr5:29600581-29600582	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs148292438	chr5:29600733-29600734	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs77533048	chr5:29600735-29600736	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs193161415	chr5:29600741-29600742	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs375658756	chr5:29602806-29602807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs4537072	chr5:29602815-29602816	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs148922722	chr5:29602831-29602832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs116751568	chr5:29602848-29602849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs143842926	chr5:29602899-29602900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs568711047	chr5:29602912-29602913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs569039589	chr5:29602982-29602983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs533061209	chr5:29602986-29602987	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs148164851	chr5:29603024-29603025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs13359640	chr5:29603025-29603026	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs577969242	chr5:29603091-29603092	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs533885395	chr5:29603126-29603127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs369242961	chr5:29603127-29603128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs146772014	chr5:29603166-29603167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs139216103	chr5:29603169-29603170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs2034294	chr5:29603210-29603211	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs575965038	chr5:29603226-29603227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs187819446	chr5:29603239-29603240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs114798488	chr5:29603241-29603242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs573383766	chr5:29603281-29603282	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs150739144	chr5:29603282-29603283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs562005872	chr5:29603297-29603298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs542064762	chr5:29603308-29603309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs574101230	chr5:29603440-29603441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs544153959	chr5:29603444-29603445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs139064199	chr5:29603461-29603462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs149454797	chr5:29603465-29603466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs143849862	chr5:29603471-29603472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs560273799	chr5:29603483-29603484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs193145736	chr5:29603486-29603487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs185591241	chr5:29603497-29603498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs199542512	chr5:29603498-29603499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs76074116	chr5:29603538-29603539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs76219806	chr5:29603544-29603545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs77727738	chr5:29603545-29603546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs139973020	chr5:29603557-29603558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs544285735	chr5:29603590-29603591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs529802850	chr5:29603600-29603601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs531155258	chr5:29613625-29613626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560423255	chr5:29613633-29613634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546035296	chr5:29613639-29613640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551142701	chr5:29613640-29613641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562327856	chr5:29613647-29613648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572149138	chr5:29613667-29613668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147786040	chr5:29613672-29613673	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: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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