Variant report

Variant	esv3471526
Chromosome Location	chr5:17486783-17499009
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	ATF1	chr5:17492224-17492379	K562	blood:	n/a	n/a
2	CEBPB	chr5:17486902-17487265	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr5:17495120-17495270	Caco-2	colon:	n/a	n/a
4	CTCF	chr5:17491694-17491823	MCF-7	breast:	n/a	n/a
5	CTCF	chr5:17488800-17488950	HPF	lung:	n/a	n/a
6	CTCF	chr5:17491692-17491836	H1-hESC	embryonic stem cell:	n/a	n/a
7	EBF1	chr5:17490158-17490500	GM12878	blood:	n/a	chr5:17490277-17490290 chr5:17490278-17490289
8	EP300	chr5:17498495-17498839	GM12878	blood:	n/a	n/a
9	EP300	chr5:17487009-17487549	Hela-S3	cervix:	n/a	chr5:17487416-17487425 chr5:17487084-17487098
10	FOSL2	chr5:17487115-17487592	A549	lung:	n/a	chr5:17487130-17487138 chr5:17487131-17487138 chr5:17487415-17487425 chr5:17487415-17487424 chr5:17487416-17487425
11	FOSL2	chr5:17487168-17487692	MCF-7	breast:	n/a	chr5:17487415-17487425 chr5:17487415-17487424 chr5:17487416-17487425
12	GABPA	chr5:17498435-17498852	Hela-S3	cervix:	n/a	n/a
13	GABPA	chr5:17498469-17498852	Hela-S3	cervix:	n/a	n/a
14	GATA2	chr5:17497535-17497893	SH-SY5Y	brain:	n/a	chr5:17497638-17497654
15	GATA3	chr5:17487077-17487887	MCF-7	breast:	n/a	chr5:17487464-17487472
16	GATA3	chr5:17487197-17487599	MCF-7	breast:	n/a	chr5:17487464-17487472
17	HEY1	chr5:17498501-17498789	K562	blood:	n/a	n/a
18	IRF4	chr5:17498469-17498838	GM12878	blood:	n/a	n/a
19	IRF4	chr5:17498490-17498797	GM12878	blood:	n/a	n/a
20	JUND	chr5:17498564-17498690	HepG2	liver:	n/a	n/a
21	JUND	chr5:17498570-17498724	HepG2	liver:	n/a	n/a
22	JUND	chr5:17487152-17487709	MCF-7	breast:	n/a	chr5:17487414-17487425 chr5:17487415-17487425 chr5:17487415-17487424 chr5:17487416-17487425
23	JUND	chr5:17487283-17487562	HepG2	liver:	n/a	chr5:17487414-17487425 chr5:17487415-17487425 chr5:17487415-17487424 chr5:17487416-17487425
24	JUND	chr5:17487102-17487627	Hela-S3	cervix:	n/a	chr5:17487130-17487138 chr5:17487131-17487138 chr5:17487414-17487425 chr5:17487415-17487425 chr5:17487415-17487424 chr5:17487416-17487425
25	MAZ	chr5:17494440-17494508	HepG2	liver:	n/a	n/a
26	PAX5	chr5:17498317-17498857	GM12878	blood:	n/a	n/a
27	POLR2A	chr5:17492452-17492655	ProgFib	skin:	n/a	n/a
28	POLR2A	chr5:17491576-17491721	MCF-7	breast:	n/a	n/a
29	POLR2A	chr5:17486712-17486833	MCF-7	breast:	n/a	n/a
30	POLR2A	chr5:17493734-17493799	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr5:17495145-17495223	K562	blood:	n/a	n/a
32	POU2F2	chr5:17498419-17498798	GM12878	blood:	n/a	n/a
33	RAD21	chr5:17487111-17487475	Hela-S3	cervix:	n/a	n/a
34	SIN3AK20	chr5:17498590-17498688	HepG2	liver:	n/a	n/a
35	SIX5	chr5:17498434-17498727	K562	blood:	n/a	n/a
36	STAT3	chr5:17489720-17489739	MCF10A-Er-Src	breast:	n/a	n/a
37	TCF3	chr5:17498507-17498884	GM12878	blood:	n/a	n/a
38	TCF7L2	chr5:17490750-17490765	Hela-S3	cervix:	n/a	n/a
39	TEAD4	chr5:17496327-17496750	H1-hESC	embryonic stem cell:	n/a	chr5:17496534-17496543
40	TEAD4	chr5:17496351-17496698	H1-hESC	embryonic stem cell:	n/a	chr5:17496534-17496543
41	USF1	chr5:17498590-17498699	HepG2	liver:	n/a	n/a
42	ZBTB33	chr5:17498438-17498852	K562	blood:	n/a	n/a
43	ZBTB33	chr5:17498517-17498854	GM12878	blood:	n/a	n/a
44	ZBTB33	chr5:17498583-17498697	HepG2	liver:	n/a	n/a
45	ZBTB33	chr5:17498349-17498817	GM12878	blood:	n/a	n/a
46	ZBTB33	chr5:17498426-17498894	K562	blood:	n/a	n/a
47	ZNF384	chr5:17495251-17495451	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:17491469-17491519	HCT-116	colon:	n/a
2	chr5:17491604-17491654	ProgFib	skin:	n/a
3	chr5:17491469-17491519	HCT-116	colon:	n/a
4	chr5:17491604-17491654	ProgFib	skin:	n/a
5	chr5:17491604-17491654	U87	brain:	n/a
6	chr5:17495781-17495831	GM12891	blood:	n/a
7	chr5:17490778-17490828	MCF10A-Er-Src	breast:	n/a
8	chr5:17491469-17491519	HRCEpiC	kidney:	n/a
9	chr5:17491469-17491519	AoSMC	blood vessel:	n/a
10	chr5:17491586-17491636	H1-hESC	embryonic stem cell:	embryo
11	chr5:17490778-17490828	PANC-1	pancreas:	n/a
12	chr5:17491469-17491519	SK-N-MC	brain:	n/a
13	chr5:17491586-17491636	K562	blood:	n/a
14	chr5:17491469-17491519	T-47D	breast:	n/a
15	chr5:17491604-17491654	HCF	heart:	n/a
16	chr5:17491604-17491654	Hepatocyte	liver:	n/a
17	chr5:17491469-17491519	HPAEpiC	pulmonary alveolar:	n/a
18	chr5:17491941-17491991	ovcar-3	ovarian:	n/a
19	chr5:17488879-17488929	GM12891	blood:	n/a
20	chr5:17491469-17491519	CMK	blood:	n/a
21	chr5:17495781-17495831	BE2_C	brain:	n/a
22	chr5:17490778-17490828	SK-N-MC	brain:	n/a
23	chr5:17491586-17491636	HepG2	liver:	n/a
24	chr5:17495781-17495831	Jurkat	blood:	n/a
25	chr5:17491941-17491991	T-47D	breast:	n/a
26	chr5:17495781-17495831	K562	blood:	n/a
27	chr5:17488879-17488929	HEK293	kidney:	embryo
28	chr5:17495781-17495831	IMR90	lung:	fetal
29	chr5:17491941-17491991	GM12878	blood:	n/a
30	chr5:17491941-17491991	GM19239	blood:	n/a
31	chr5:17490778-17490828	HMEC	breast:	n/a
32	chr5:17491941-17491991	RPTEC	kidney:	n/a
33	chr5:17490778-17490828	HEEpiC	esophagus:	n/a
34	chr5:17491586-17491636	NT2-D1	testis:	n/a
35	chr5:17491604-17491654	HAEpiC	amniotic membrane:	n/a
36	chr5:17491604-17491654	HRE	kidney:	n/a
37	chr5:17488879-17488929	HCPEpiC	choroid plexus:	n/a
38	chr5:17491941-17491991	LNCaP	prostate:	n/a
39	chr5:17495781-17495831	Hepatocyte	liver:	n/a
40	chr5:17491586-17491636	NH-A	brain:	n/a
41	chr5:17490778-17490828	HRPEpiC	eye:	n/a
42	chr5:17491604-17491654	MCF10A-Er-Src	breast:	n/a
43	chr5:17491586-17491636	SK-N-SH_RA	brain:	n/a
44	chr5:17491604-17491654	HNPCEpiC	eye:	n/a
45	chr5:17491469-17491519	HEEpiC	esophagus:	n/a
46	chr5:17491941-17491991	HCF	heart:	n/a
47	chr5:17488879-17488929	H1-hESC	embryonic stem cell:	embryo
48	chr5:17491941-17491991	AG04450	lung:	fetal
49	chr5:17491604-17491654	K562	blood:	n/a
50	chr5:17491604-17491654	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:17491440..17494172-chr5:17495062..17497549,2	MCF-7	breast:
2	chr5:17491440..17494172-chr5:17495062..17497549,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BASP1-11	chr5:17494578-17494846	l_2885_chr5:17456969-17494846_brain

Variant related genes	Relation type
ENSG00000250667	TF binding region
ENSG00000268799	TF binding region
ENSG00000185041	TF binding region
ENSG00000250667	CpG island
ENSG00000268799	CpG island
ENSG00000185041	CpG island
ENSG00000250667	chromatin interactions
ENSG00000268799	chromatin interactions

Extended variants
information (count: 456 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:456 , 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	rs61748308	chr5:17486783-17486784	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs61748309	chr5:17486788-17486789	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs201910172	chr5:17486824-17486825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546606995	chr5:17486839-17486840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200505938	chr5:17486841-17486842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541830986	chr5:17486847-17486848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191192792	chr5:17486848-17486849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552455649	chr5:17486879-17486880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569475891	chr5:17486880-17486881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538155264	chr5:17486900-17486901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555330932	chr5:17486952-17486953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575225484	chr5:17486977-17486978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536225837	chr5:17487023-17487024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553007509	chr5:17487080-17487081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183394473	chr5:17487100-17487101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187689135	chr5:17487108-17487109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564926698	chr5:17487116-17487117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575422231	chr5:17487117-17487118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544161346	chr5:17487220-17487221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560817299	chr5:17487247-17487248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112635888	chr5:17487270-17487271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563122971	chr5:17487314-17487315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546545661	chr5:17487323-17487324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560123573	chr5:17487336-17487337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114989188	chr5:17487351-17487352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367831071	chr5:17487410-17487411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552687266	chr5:17487528-17487529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569332431	chr5:17487532-17487533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538398874	chr5:17487537-17487538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531323658	chr5:17487569-17487570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370603797	chr5:17487625-17487626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141142485	chr5:17487641-17487642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192753160	chr5:17487645-17487646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552991557	chr5:17487689-17487690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184160265	chr5:17487691-17487692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538331306	chr5:17487696-17487697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558651712	chr5:17487697-17487698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575261192	chr5:17487699-17487700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543976913	chr5:17487704-17487705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34893807	chr5:17487731-17487732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560754438	chr5:17487739-17487740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150912204	chr5:17487749-17487750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540176214	chr5:17487767-17487768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560111396	chr5:17487771-17487772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532567804	chr5:17487795-17487796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113978148	chr5:17487802-17487803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188410832	chr5:17487899-17487900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144034988	chr5:17487950-17487951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372292246	chr5:17487975-17487976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549847101	chr5:17487977-17487978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
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
Cervical squamous cell carcinoma	21590768	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
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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	19287141	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17483000-17487000	Weak transcription	A549	lung
2	chr5:17486200-17487800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr5:17487000-17487600	Enhancers	A549	lung
4	chr5:17487200-17487400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:17487200-17487600	Enhancers	Hela-S3	cervix
6	chr5:17487400-17488200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:17488200-17489000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:17494400-17496200	Enhancers	Primary neutrophils fromperipheralblood	blood

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