Variant report

Variant	esv1810683
Chromosome Location	chr5:17499140-17516367
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:17499625-17499833	GM12878	blood:	n/a	n/a
2	BCL11A	chr5:17499603-17499787	GM12878	blood:	n/a	n/a
3	BCL11A	chr5:17499619-17499851	GM12878	blood:	n/a	n/a
4	CEBPB	chr5:17504178-17504267	HepG2	liver:	n/a	n/a
5	CTCF	chr5:17507228-17507340	GM13976	blood:	n/a	n/a
6	CTCF	chr5:17508150-17508159	LNCaP	prostate:	n/a	n/a
7	CTCF	chr5:17509784-17509815	Medullo	brain:	n/a	n/a
8	CTCF	chr5:17511524-17511588	LNCaP	prostate:	n/a	n/a
9	CTCF	chr5:17499727-17499747	LNCaP	prostate:	n/a	n/a
10	CTCF	chr5:17500777-17500832	GM13976	blood:	n/a	n/a
11	EP300	chr5:17499644-17499832	GM12878	blood:	n/a	n/a
12	EP300	chr5:17499500-17499859	GM12878	blood:	n/a	n/a
13	FOSL2	chr5:17499590-17499879	HepG2	liver:	n/a	n/a
14	FOSL2	chr5:17499533-17499889	HepG2	liver:	n/a	n/a
15	FOXA1	chr5:17513527-17513816	HepG2	liver:	n/a	chr5:17513643-17513655
16	FOXA1	chr5:17499599-17499849	HepG2	liver:	n/a	n/a
17	FOXA1	chr5:17513472-17513776	HepG2	liver:	n/a	chr5:17513643-17513655
18	FOXA2	chr5:17513456-17513725	A549	lung:	n/a	chr5:17513643-17513655
19	GABPA	chr5:17499623-17499830	Hela-S3	cervix:	n/a	n/a
20	GABPA	chr5:17499505-17499848	Hela-S3	cervix:	n/a	n/a
21	HEY1	chr5:17499495-17499849	K562	blood:	n/a	n/a
22	IRF4	chr5:17499602-17499882	GM12878	blood:	n/a	n/a
23	IRF4	chr5:17499594-17499869	GM12878	blood:	n/a	n/a
24	JUND	chr5:17499590-17499846	HepG2	liver:	n/a	n/a
25	MYC	chr5:17512093-17512243	H1-hESC	embryonic stem cell:	n/a	n/a
26	PAX5	chr5:17499636-17499835	GM12878	blood:	n/a	n/a
27	PAX5	chr5:17499582-17499884	GM12878	blood:	n/a	n/a
28	PBX3	chr5:17499697-17499819	GM12878	blood:	n/a	n/a
29	POLR2A	chr5:17504463-17504539	GM12878	blood:	n/a	n/a
30	POLR2A	chr5:17499572-17499849	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr5:17499755-17499764	GM12878	blood:	n/a	n/a
32	POU2F2	chr5:17499561-17499886	GM12878	blood:	n/a	n/a
33	RXRA	chr5:17499590-17499903	GM12878	blood:	n/a	n/a
34	RXRA	chr5:17499505-17499893	HepG2	liver:	n/a	n/a
35	SIN3AK20	chr5:17499615-17499777	HepG2	liver:	n/a	n/a
36	SIX5	chr5:17499589-17499899	K562	blood:	n/a	n/a
37	SIX5	chr5:17499535-17499850	K562	blood:	n/a	n/a
38	SP1	chr5:17499608-17499862	GM12878	blood:	n/a	n/a
39	SP1	chr5:17499610-17499861	HepG2	liver:	n/a	n/a
40	SP1	chr5:17499605-17499871	GM12878	blood:	n/a	n/a
41	SPI1	chr5:17499589-17499842	GM12878	blood:	n/a	n/a
42	SPI1	chr5:17499584-17499826	K562	blood:	n/a	n/a
43	TAF1	chr5:17499590-17499831	Hela-S3	cervix:	n/a	n/a
44	TAF1	chr5:17499611-17499836	Hela-S3	cervix:	n/a	n/a
45	TCF12	chr5:17499602-17499811	GM12878	blood:	n/a	n/a
46	USF1	chr5:17499623-17499795	HepG2	liver:	n/a	n/a
47	USF1	chr5:17499651-17499819	HepG2	liver:	n/a	n/a
48	USF2	chr5:17514012-17514060	HepG2	liver:	n/a	n/a
49	ZBTB33	chr5:17499562-17499860	HepG2	liver:	n/a	n/a
50	ZBTB33	chr5:17499614-17499929	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000249620	TF binding region
ENSG00000248861	TF binding region
ENSG00000248205	TF binding region
ENSG00000250667	TF binding region

Extended variants
information (count: 381 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79364898	chr5:17499501-17499502	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs75247455	chr5:17499506-17499507	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs75689828	chr5:17499514-17499515	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs78560681	chr5:17499526-17499527	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs556789390	chr5:17499528-17499529	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs75656583	chr5:17499531-17499532	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs76286179	chr5:17499534-17499535	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs189724526	chr5:17499539-17499540	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs80130737	chr5:17499540-17499541	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs77710611	chr5:17499547-17499548	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs78663451	chr5:17499552-17499553	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs75244149	chr5:17499567-17499568	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs77071406	chr5:17499570-17499571	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs542414526	chr5:17499614-17499615	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs73756922	chr5:17499615-17499616	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs539563040	chr5:17499619-17499620	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs79690437	chr5:17499636-17499637	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs76629657	chr5:17499643-17499644	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs551306001	chr5:17499652-17499653	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs78978675	chr5:17499663-17499664	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs201217979	chr5:17499673-17499674	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs5024544	chr5:17499676-17499677	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs369041530	chr5:17499678-17499679	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs138760798	chr5:17499680-17499681	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs186395486	chr5:17499681-17499682	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs74199271	chr5:17499693-17499694	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs532074965	chr5:17499725-17499726	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs191350566	chr5:17499730-17499731	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs139450142	chr5:17499740-17499741	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs146731723	chr5:17499742-17499743	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs149110265	chr5:17499751-17499752	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs569526403	chr5:17499754-17499755	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs531357175	chr5:17499760-17499761	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs183541141	chr5:17499762-17499763	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs568228202	chr5:17499819-17499820	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs534126565	chr5:17499829-17499830	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs201941095	chr5:17499854-17499855	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs570901859	chr5:17499855-17499856	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs201843446	chr5:17499871-17499872	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs539852771	chr5:17499877-17499878	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs370672253	chr5:17499887-17499888	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs556650460	chr5:17499928-17499929	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs76465739	chr5:17500637-17500638	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577936879	chr5:17500640-17500641	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78554595	chr5:17500654-17500655	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545357467	chr5:17500688-17500689	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201036303	chr5:17500702-17500703	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115275544	chr5:17500710-17500711	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370206934	chr5:17500749-17500750	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576030978	chr5:17500762-17500763	Active TSS Enhancers	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17500600-17500800	Enhancers	A549	lung
2	chr5:17500600-17500800	Enhancers	Hela-S3	cervix
3	chr5:17500600-17501000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:17500600-17501000	Active TSS	NHDF-Ad	bronchial
5	chr5:17502200-17503000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:17509000-17509400	Enhancers	Fetal Brain Male	brain
7	chr5:17512000-17512200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:17512200-17512400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:17512200-17512400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:17512400-17512600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:17512600-17517600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:17512600-17519400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:17513600-17514600	Enhancers	A549	lung

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