Variant report

Variant	esv2421368
Chromosome Location	chr5:17484038-17517440
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:110)
CpG islands
(count:549)
Chromatin interactive
region (count:2)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:110 , 50 per page) page: 1 2 3

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	BATF	chr5:17499625-17499833	GM12878	blood:	n/a	n/a
3	BCL11A	chr5:17499619-17499851	GM12878	blood:	n/a	n/a
4	BCL11A	chr5:17499603-17499787	GM12878	blood:	n/a	n/a
5	CEBPB	chr5:17486902-17487265	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr5:17504178-17504267	HepG2	liver:	n/a	n/a
7	CTCF	chr5:17511524-17511588	LNCaP	prostate:	n/a	n/a
8	CTCF	chr5:17507228-17507340	GM13976	blood:	n/a	n/a
9	CTCF	chr5:17500777-17500832	GM13976	blood:	n/a	n/a
10	CTCF	chr5:17499727-17499747	LNCaP	prostate:	n/a	n/a
11	CTCF	chr5:17509784-17509815	Medullo	brain:	n/a	n/a
12	CTCF	chr5:17495120-17495270	Caco-2	colon:	n/a	n/a
13	CTCF	chr5:17486619-17486669	Fibrobl	skin:	n/a	n/a
14	CTCF	chr5:17491692-17491836	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr5:17508150-17508159	LNCaP	prostate:	n/a	n/a
16	CTCF	chr5:17491694-17491823	MCF-7	breast:	n/a	n/a
17	CTCF	chr5:17488800-17488950	HPF	lung:	n/a	n/a
18	EBF1	chr5:17490158-17490500	GM12878	blood:	n/a	chr5:17490277-17490290 chr5:17490278-17490289
19	EP300	chr5:17499644-17499832	GM12878	blood:	n/a	n/a
20	EP300	chr5:17485346-17485854	SK-N-SH_RA	brain:	n/a	chr5:17485360-17485370
21	EP300	chr5:17487009-17487549	Hela-S3	cervix:	n/a	chr5:17487416-17487425 chr5:17487084-17487098
22	EP300	chr5:17498495-17498839	GM12878	blood:	n/a	n/a
23	EP300	chr5:17499500-17499859	GM12878	blood:	n/a	n/a
24	FOSL2	chr5:17499533-17499889	HepG2	liver:	n/a	n/a
25	FOSL2	chr5:17487115-17487592	A549	lung:	n/a	chr5:17487130-17487138 chr5:17487131-17487138 chr5:17487415-17487425 chr5:17487415-17487424 chr5:17487416-17487425
26	FOSL2	chr5:17487168-17487692	MCF-7	breast:	n/a	chr5:17487415-17487425 chr5:17487415-17487424 chr5:17487416-17487425
27	FOSL2	chr5:17499590-17499879	HepG2	liver:	n/a	n/a
28	FOXA1	chr5:17483808-17484066	HepG2	liver:	n/a	n/a
29	FOXA1	chr5:17499599-17499849	HepG2	liver:	n/a	n/a
30	FOXA1	chr5:17513472-17513776	HepG2	liver:	n/a	chr5:17513643-17513655
31	FOXA1	chr5:17513527-17513816	HepG2	liver:	n/a	chr5:17513643-17513655
32	FOXA2	chr5:17483709-17484200	A549	lung:	n/a	n/a
33	FOXA2	chr5:17513456-17513725	A549	lung:	n/a	chr5:17513643-17513655
34	GABPA	chr5:17499623-17499830	Hela-S3	cervix:	n/a	n/a
35	GABPA	chr5:17498435-17498852	Hela-S3	cervix:	n/a	n/a
36	GABPA	chr5:17498469-17498852	Hela-S3	cervix:	n/a	n/a
37	GABPA	chr5:17499505-17499848	Hela-S3	cervix:	n/a	n/a
38	GATA2	chr5:17497535-17497893	SH-SY5Y	brain:	n/a	chr5:17497638-17497654
39	GATA2	chr5:17485370-17486085	SH-SY5Y	brain:	n/a	n/a
40	GATA3	chr5:17487197-17487599	MCF-7	breast:	n/a	chr5:17487464-17487472
41	GATA3	chr5:17487077-17487887	MCF-7	breast:	n/a	chr5:17487464-17487472
42	GATA3	chr5:17485559-17485913	SH-SY5Y	brain:	n/a	n/a
43	HEY1	chr5:17499495-17499849	K562	blood:	n/a	n/a
44	HEY1	chr5:17498501-17498789	K562	blood:	n/a	n/a
45	IRF4	chr5:17499602-17499882	GM12878	blood:	n/a	n/a
46	IRF4	chr5:17498469-17498838	GM12878	blood:	n/a	n/a
47	IRF4	chr5:17499594-17499869	GM12878	blood:	n/a	n/a
48	IRF4	chr5:17498490-17498797	GM12878	blood:	n/a	n/a
49	JUND	chr5:17487152-17487709	MCF-7	breast:	n/a	chr5:17487414-17487425 chr5:17487415-17487425 chr5:17487415-17487424 chr5:17487416-17487425
50	JUND	chr5:17498564-17498690	HepG2	liver:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:17491469-17491519	HIPEpiC	eye:	n/a
2	chr5:17491604-17491654	HCT-116	colon:	n/a
3	chr5:17517201-17517251	AG09319	gingival:	n/a
4	chr5:17491586-17491636	T-47D	breast:	n/a
5	chr5:17490778-17490828	ECC-1	luminal epithelium:	n/a
6	chr5:17488879-17488929	ECC-1	luminal epithelium:	n/a
7	chr5:17495781-17495831	U87	brain:	n/a
8	chr5:17490778-17490828	GM12892	blood:	n/a
9	chr5:17491604-17491654	HCF	heart:	n/a
10	chr5:17490778-17490828	SK-N-SH_RA	brain:	n/a
11	chr5:17491586-17491636	MCF10A-Er-Src	breast:	n/a
12	chr5:17490778-17490828	K562	blood:	n/a
13	chr5:17491586-17491636	HCF	heart:	n/a
14	chr5:17491586-17491636	GM12892	blood:	n/a
15	chr5:17517201-17517251	CMK	blood:	n/a
16	chr5:17488879-17488929	NH-A	brain:	n/a
17	chr5:17517201-17517251	SK-N-SH	brain:	n/a
18	chr5:17495781-17495831	HIPEpiC	eye:	n/a
19	chr5:17485435-17485485	HCF	heart:	n/a
20	chr5:17485435-17485485	BE2_C	brain:	n/a
21	chr5:17517201-17517251	HIPEpiC	eye:	n/a
22	chr5:17491941-17491991	T-47D	breast:	n/a
23	chr5:17491586-17491636	HCPEpiC	choroid plexus:	n/a
24	chr5:17490778-17490828	GM19239	blood:	n/a
25	chr5:17485435-17485485	SK-N-SH	brain:	n/a
26	chr5:17491604-17491654	LNCaP	prostate:	n/a
27	chr5:17485435-17485485	SAEC	small airway:	n/a
28	chr5:17488879-17488929	MCF-7	breast:	n/a
29	chr5:17517201-17517251	HCM	heart:	n/a
30	chr5:17491941-17491991	AG04450	lung:	fetal
31	chr5:17517201-17517251	AG09309	skin:	n/a
32	chr5:17491604-17491654	HNPCEpiC	eye:	n/a
33	chr5:17491469-17491519	AG04450	lung:	fetal
34	chr5:17485435-17485485	AoSMC	blood vessel:	n/a
35	chr5:17491604-17491654	HIPEpiC	eye:	n/a
36	chr5:17485435-17485485	AG04449	skin:	fetal
37	chr5:17485435-17485485	ProgFib	skin:	n/a
38	chr5:17491469-17491519	CMK	blood:	n/a
39	chr5:17491604-17491654	BJ	skin:	n/a
40	chr5:17491586-17491636	ECC-1	luminal epithelium:	n/a
41	chr5:17491469-17491519	SAEC	small airway:	n/a
42	chr5:17490778-17490828	CMK	blood:	n/a
43	chr5:17485435-17485485	PANC-1	pancreas:	n/a
44	chr5:17490778-17490828	U87	brain:	n/a
45	chr5:17491941-17491991	IMR90	lung:	fetal
46	chr5:17490778-17490828	HEK293	kidney:	embryo
47	chr5:17491469-17491519	BE2_C	brain:	n/a
48	chr5:17491604-17491654	PANC-1	pancreas:	n/a
49	chr5:17491586-17491636	ProgFib	skin:	n/a
50	chr5:17488879-17488929	NB4	blood:	n/a

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

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:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BASP1-4	chr5:17485639-17485937	XLOC_004309
2	lnc-BASP1-4	chr5:17483931-17484068	XLOC_004309
3	lnc-BASP1-11	chr5:17494578-17494846	l_2885_chr5:17456969-17494846_brain
4	lnc-BASP1-4	chr5:17483841-17484055	XLOC_004309

No data

Variant related genes	Relation type
ENSG00000251304	TF binding region
ENSG00000248861	TF binding region
ENSG00000248205	TF binding region
ENSG00000250667	TF binding region
ENSG00000249339	TF binding region
ENSG00000268799	TF binding region
ENSG00000185041	TF binding region
ENSG00000249620	TF binding region
ENSG00000251304	CpG island
ENSG00000248861	CpG island
ENSG00000248205	CpG island
ENSG00000250667	CpG island
ENSG00000249339	CpG island
ENSG00000268799	CpG island
ENSG00000185041	CpG island
ENSG00000249620	CpG island
ENSG00000250667	chromatin interactions
ENSG00000268799	chromatin interactions

Extended variants
information (count: 1031 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1031 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1510960	chr5:17484038-17484039	Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183958816	chr5:17484058-17484059	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs77381061	chr5:17484103-17484104	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs539159367	chr5:17484130-17484131	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs142397827	chr5:17484169-17484170	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs544314552	chr5:17484219-17484220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186754570	chr5:17484220-17484221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535739398	chr5:17484236-17484237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192164534	chr5:17484248-17484249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572458032	chr5:17484263-17484264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534981947	chr5:17484283-17484284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541419793	chr5:17484305-17484306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376647717	chr5:17484408-17484409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561629155	chr5:17484416-17484417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558205160	chr5:17484429-17484430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs578012258	chr5:17484572-17484573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543562135	chr5:17484677-17484678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563902350	chr5:17484690-17484691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145928179	chr5:17484747-17484748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574179299	chr5:17484806-17484807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542897315	chr5:17484842-17484843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138946706	chr5:17484863-17484864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528778796	chr5:17484864-17484865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550386135	chr5:17484893-17484894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546939508	chr5:17484908-17484909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149423736	chr5:17484920-17484921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184889851	chr5:17484921-17484922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549659553	chr5:17484976-17484977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569812566	chr5:17485031-17485032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535684337	chr5:17485071-17485072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189446936	chr5:17485077-17485078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182028102	chr5:17485078-17485079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144794585	chr5:17485135-17485136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558144043	chr5:17485198-17485199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577991405	chr5:17485207-17485208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148569093	chr5:17485209-17485210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568257730	chr5:17485285-17485286	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs558608592	chr5:17485333-17485334	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs142911667	chr5:17485403-17485404	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs532517919	chr5:17485411-17485412	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs547476765	chr5:17485413-17485414	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs557206767	chr5:17485419-17485420	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs112795857	chr5:17485424-17485425	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs369912205	chr5:17485435-17485436	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs140805589	chr5:17485436-17485437	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs565799002	chr5:17485441-17485442	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs559520944	chr5:17485454-17485455	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs554110693	chr5:17485567-17485568	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs573157994	chr5:17485598-17485599	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs530137450	chr5:17485631-17485632	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17476400-17486200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:17483000-17487000	Weak transcription	A549	lung
3	chr5:17486200-17487800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr5:17487000-17487600	Enhancers	A549	lung
5	chr5:17487200-17487400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:17487200-17487600	Enhancers	Hela-S3	cervix
7	chr5:17487400-17488200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:17488200-17489000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:17494400-17496200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr5:17500600-17500800	Enhancers	A549	lung
11	chr5:17500600-17500800	Enhancers	Hela-S3	cervix
12	chr5:17500600-17501000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:17500600-17501000	Active TSS	NHDF-Ad	bronchial
14	chr5:17502200-17503000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:17509000-17509400	Enhancers	Fetal Brain Male	brain
16	chr5:17512000-17512200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:17512200-17512400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:17512200-17512400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:17512400-17512600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:17512600-17517600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:17512600-17519400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:17513600-17514600	Enhancers	A549	lung
23	chr5:17517400-17517600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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