Variant report

Variant	esv3326600
Chromosome Location	chr5:17496409-17516127
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:76)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:76 , 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	chr5:17499619-17499851	GM12878	blood:	n/a	n/a
3	BCL11A	chr5:17499603-17499787	GM12878	blood:	n/a	n/a
4	CEBPB	chr5:17504178-17504267	HepG2	liver:	n/a	n/a
5	CTCF	chr5:17508150-17508159	LNCaP	prostate:	n/a	n/a
6	CTCF	chr5:17499727-17499747	LNCaP	prostate:	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	chr5:17509784-17509815	Medullo	brain:	n/a	n/a
11	EP300	chr5:17499500-17499859	GM12878	blood:	n/a	n/a
12	EP300	chr5:17499644-17499832	GM12878	blood:	n/a	n/a
13	EP300	chr5:17498495-17498839	GM12878	blood:	n/a	n/a
14	FOSL2	chr5:17499590-17499879	HepG2	liver:	n/a	n/a
15	FOSL2	chr5:17499533-17499889	HepG2	liver:	n/a	n/a
16	FOXA1	chr5:17499599-17499849	HepG2	liver:	n/a	n/a
17	FOXA1	chr5:17513472-17513776	HepG2	liver:	n/a	chr5:17513643-17513655
18	FOXA1	chr5:17513527-17513816	HepG2	liver:	n/a	chr5:17513643-17513655
19	FOXA2	chr5:17513456-17513725	A549	lung:	n/a	chr5:17513643-17513655
20	GABPA	chr5:17499623-17499830	Hela-S3	cervix:	n/a	n/a
21	GABPA	chr5:17499505-17499848	Hela-S3	cervix:	n/a	n/a
22	GABPA	chr5:17498469-17498852	Hela-S3	cervix:	n/a	n/a
23	GABPA	chr5:17498435-17498852	Hela-S3	cervix:	n/a	n/a
24	GATA2	chr5:17497535-17497893	SH-SY5Y	brain:	n/a	chr5:17497638-17497654
25	HEY1	chr5:17498501-17498789	K562	blood:	n/a	n/a
26	HEY1	chr5:17499495-17499849	K562	blood:	n/a	n/a
27	IRF4	chr5:17498469-17498838	GM12878	blood:	n/a	n/a
28	IRF4	chr5:17499594-17499869	GM12878	blood:	n/a	n/a
29	IRF4	chr5:17499602-17499882	GM12878	blood:	n/a	n/a
30	IRF4	chr5:17498490-17498797	GM12878	blood:	n/a	n/a
31	JUND	chr5:17498570-17498724	HepG2	liver:	n/a	n/a
32	JUND	chr5:17498564-17498690	HepG2	liver:	n/a	n/a
33	JUND	chr5:17499590-17499846	HepG2	liver:	n/a	n/a
34	MYC	chr5:17512093-17512243	H1-hESC	embryonic stem cell:	n/a	n/a
35	PAX5	chr5:17498317-17498857	GM12878	blood:	n/a	n/a
36	PAX5	chr5:17499582-17499884	GM12878	blood:	n/a	n/a
37	PAX5	chr5:17499636-17499835	GM12878	blood:	n/a	n/a
38	PBX3	chr5:17499697-17499819	GM12878	blood:	n/a	n/a
39	POLR2A	chr5:17499572-17499849	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr5:17499755-17499764	GM12878	blood:	n/a	n/a
41	POLR2A	chr5:17504463-17504539	GM12878	blood:	n/a	n/a
42	POU2F2	chr5:17498419-17498798	GM12878	blood:	n/a	n/a
43	POU2F2	chr5:17499561-17499886	GM12878	blood:	n/a	n/a
44	RXRA	chr5:17499505-17499893	HepG2	liver:	n/a	n/a
45	RXRA	chr5:17499590-17499903	GM12878	blood:	n/a	n/a
46	SIN3AK20	chr5:17499615-17499777	HepG2	liver:	n/a	n/a
47	SIN3AK20	chr5:17498590-17498688	HepG2	liver:	n/a	n/a
48	SIX5	chr5:17499535-17499850	K562	blood:	n/a	n/a
49	SIX5	chr5:17499589-17499899	K562	blood:	n/a	n/a
50	SIX5	chr5:17498434-17498727	K562	blood:	n/a	n/a

No data

(count:1 , 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:

No data

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

Extended variants
information (count: 524 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75755618	chr5:17496415-17496416	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs150619216	chr5:17496431-17496432	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs373998957	chr5:17496449-17496450	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs543695397	chr5:17496480-17496481	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs535024022	chr5:17496485-17496486	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs188335779	chr5:17496510-17496511	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs573995494	chr5:17496552-17496553	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs553397931	chr5:17496562-17496563	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs193029171	chr5:17496564-17496565	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs368938919	chr5:17496616-17496617	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs185566032	chr5:17496620-17496621	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs541417739	chr5:17496626-17496627	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs561763015	chr5:17496636-17496637	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs527390501	chr5:17496655-17496656	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs541147822	chr5:17496683-17496684	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs113377116	chr5:17496722-17496723	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs533124871	chr5:17496735-17496736	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs550022610	chr5:17496756-17496757	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs569919213	chr5:17496760-17496761	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs141934199	chr5:17496777-17496778	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs542079455	chr5:17496792-17496793	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs549100080	chr5:17496827-17496828	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs566115159	chr5:17496833-17496834	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs534787760	chr5:17496854-17496855	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs188933068	chr5:17496882-17496883	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs191477468	chr5:17496902-17496903	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs183719363	chr5:17496910-17496911	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs557140074	chr5:17496986-17496987	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs188777383	chr5:17497059-17497060	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201450853	chr5:17497112-17497113	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs552845386	chr5:17497134-17497135	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs375725157	chr5:17497142-17497143	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs377691620	chr5:17497153-17497154	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs2457753	chr5:17497219-17497220	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs77693388	chr5:17497261-17497262	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs536998876	chr5:17497266-17497267	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs74399882	chr5:17497291-17497292	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs145360588	chr5:17497315-17497316	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs200116269	chr5:17497318-17497319	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs555040823	chr5:17497335-17497336	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs75878878	chr5:17497338-17497339	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs575842104	chr5:17497352-17497353	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs79475218	chr5:17497358-17497359	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs75211029	chr5:17497359-17497360	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs74708913	chr5:17497364-17497365	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs115186699	chr5:17497375-17497376	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs139966456	chr5:17497385-17497386	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs369547634	chr5:17497398-17497399	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs564141942	chr5:17497409-17497410	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs78222197	chr5:17497410-17497411	Inactive region	Chromatin interactive region	1 gene(s)	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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