Variant report

Variant	nsv1026765
Chromosome Location	chr5:17490741-17515789
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:368)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:87 , 50 per page) page: 1 2

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	chr5:17504178-17504267	HepG2	liver:	n/a	n/a
6	CTCF	chr5:17491694-17491823	MCF-7	breast:	n/a	n/a
7	CTCF	chr5:17509784-17509815	Medullo	brain:	n/a	n/a
8	CTCF	chr5:17508150-17508159	LNCaP	prostate:	n/a	n/a
9	CTCF	chr5:17495120-17495270	Caco-2	colon:	n/a	n/a
10	CTCF	chr5:17500777-17500832	GM13976	blood:	n/a	n/a
11	CTCF	chr5:17491692-17491836	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr5:17507228-17507340	GM13976	blood:	n/a	n/a
13	CTCF	chr5:17499727-17499747	LNCaP	prostate:	n/a	n/a
14	CTCF	chr5:17511524-17511588	LNCaP	prostate:	n/a	n/a
15	EP300	chr5:17499500-17499859	GM12878	blood:	n/a	n/a
16	EP300	chr5:17499644-17499832	GM12878	blood:	n/a	n/a
17	EP300	chr5:17498495-17498839	GM12878	blood:	n/a	n/a
18	FOSL2	chr5:17499533-17499889	HepG2	liver:	n/a	n/a
19	FOSL2	chr5:17499590-17499879	HepG2	liver:	n/a	n/a
20	FOXA1	chr5:17513472-17513776	HepG2	liver:	n/a	chr5:17513643-17513655
21	FOXA1	chr5:17513527-17513816	HepG2	liver:	n/a	chr5:17513643-17513655
22	FOXA1	chr5:17499599-17499849	HepG2	liver:	n/a	n/a
23	FOXA2	chr5:17513456-17513725	A549	lung:	n/a	chr5:17513643-17513655
24	GABPA	chr5:17499623-17499830	Hela-S3	cervix:	n/a	n/a
25	GABPA	chr5:17499505-17499848	Hela-S3	cervix:	n/a	n/a
26	GABPA	chr5:17498469-17498852	Hela-S3	cervix:	n/a	n/a
27	GABPA	chr5:17498435-17498852	Hela-S3	cervix:	n/a	n/a
28	GATA2	chr5:17497535-17497893	SH-SY5Y	brain:	n/a	chr5:17497638-17497654
29	HEY1	chr5:17499495-17499849	K562	blood:	n/a	n/a
30	HEY1	chr5:17498501-17498789	K562	blood:	n/a	n/a
31	IRF4	chr5:17498469-17498838	GM12878	blood:	n/a	n/a
32	IRF4	chr5:17499602-17499882	GM12878	blood:	n/a	n/a
33	IRF4	chr5:17498490-17498797	GM12878	blood:	n/a	n/a
34	IRF4	chr5:17499594-17499869	GM12878	blood:	n/a	n/a
35	JUND	chr5:17498564-17498690	HepG2	liver:	n/a	n/a
36	JUND	chr5:17499590-17499846	HepG2	liver:	n/a	n/a
37	JUND	chr5:17498570-17498724	HepG2	liver:	n/a	n/a
38	MAZ	chr5:17494440-17494508	HepG2	liver:	n/a	n/a
39	MYC	chr5:17512093-17512243	H1-hESC	embryonic stem cell:	n/a	n/a
40	PAX5	chr5:17499636-17499835	GM12878	blood:	n/a	n/a
41	PAX5	chr5:17498317-17498857	GM12878	blood:	n/a	n/a
42	PAX5	chr5:17499582-17499884	GM12878	blood:	n/a	n/a
43	PBX3	chr5:17499697-17499819	GM12878	blood:	n/a	n/a
44	POLR2A	chr5:17499755-17499764	GM12878	blood:	n/a	n/a
45	POLR2A	chr5:17491576-17491721	MCF-7	breast:	n/a	n/a
46	POLR2A	chr5:17499572-17499849	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr5:17492452-17492655	ProgFib	skin:	n/a	n/a
48	POLR2A	chr5:17495145-17495223	K562	blood:	n/a	n/a
49	POLR2A	chr5:17493734-17493799	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr5:17504463-17504539	GM12878	blood:	n/a	n/a

(count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:17490778-17490828	SK-N-MC	brain:	n/a
2	chr5:17495781-17495831	NHDF-neo	bronchial:	n/a
3	chr5:17490778-17490828	SK-N-MC	brain:	n/a
4	chr5:17495781-17495831	NHDF-neo	bronchial:	n/a
5	chr5:17495781-17495831	Hela-S3	cervix:	n/a
6	chr5:17491604-17491654	H1-hESC	embryonic stem cell:	embryo
7	chr5:17491469-17491519	Hepatocyte	liver:	n/a
8	chr5:17491586-17491636	Hela-S3	cervix:	n/a
9	chr5:17490778-17490828	AG09309	skin:	n/a
10	chr5:17490778-17490828	ProgFib	skin:	n/a
11	chr5:17491469-17491519	AG04450	lung:	fetal
12	chr5:17491469-17491519	HepG2	liver:	n/a
13	chr5:17490778-17490828	BJ	skin:	n/a
14	chr5:17491941-17491991	HRPEpiC	eye:	n/a
15	chr5:17495781-17495831	Jurkat	blood:	n/a
16	chr5:17491469-17491519	SK-N-MC	brain:	n/a
17	chr5:17491604-17491654	NH-A	brain:	n/a
18	chr5:17495781-17495831	SK-N-SH	brain:	n/a
19	chr5:17495781-17495831	T-47D	breast:	n/a
20	chr5:17491469-17491519	HMEC	breast:	n/a
21	chr5:17490778-17490828	AG04450	lung:	fetal
22	chr5:17491604-17491654	AG09309	skin:	n/a
23	chr5:17491941-17491991	ProgFib	skin:	n/a
24	chr5:17495781-17495831	HRPEpiC	eye:	n/a
25	chr5:17495781-17495831	RPTEC	kidney:	n/a
26	chr5:17491604-17491654	SK-N-SH	brain:	n/a
27	chr5:17495781-17495831	H1-hESC	embryonic stem cell:	embryo
28	chr5:17495781-17495831	AG10803	skin:	n/a
29	chr5:17491586-17491636	HCF	heart:	n/a
30	chr5:17491941-17491991	HL-60	blood:	n/a
31	chr5:17491941-17491991	HCT-116	colon:	n/a
32	chr5:17491941-17491991	AG09319	gingival:	n/a
33	chr5:17491941-17491991	T-47D	breast:	n/a
34	chr5:17495781-17495831	AG09319	gingival:	n/a
35	chr5:17490778-17490828	NT2-D1	testis:	n/a
36	chr5:17491469-17491519	SK-N-SH_RA	brain:	n/a
37	chr5:17490778-17490828	GM12892	blood:	n/a
38	chr5:17491941-17491991	HNPCEpiC	eye:	n/a
39	chr5:17495781-17495831	A549	lung:	n/a
40	chr5:17491941-17491991	BE2_C	brain:	n/a
41	chr5:17491469-17491519	K562	blood:	n/a
42	chr5:17491586-17491636	GM12892	blood:	n/a
43	chr5:17495781-17495831	GM19239	blood:	n/a
44	chr5:17495781-17495831	HRE	kidney:	n/a
45	chr5:17491604-17491654	RPTEC	kidney:	n/a
46	chr5:17491469-17491519	HRPEpiC	eye:	n/a
47	chr5:17495781-17495831	NT2-D1	testis:	n/a
48	chr5:17491469-17491519	T-47D	breast:	n/a
49	chr5:17495781-17495831	ECC-1	luminal epithelium:	n/a
50	chr5:17495781-17495831	HCM	heart:	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:1 , 50 per page) page: 1

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

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	CpG island
ENSG00000249620	CpG island
ENSG00000248861	CpG island
ENSG00000248205	CpG island
ENSG00000250667	CpG island
ENSG00000185041	CpG island
ENSG00000250667	chromatin interactions
ENSG00000268799	chromatin interactions

Extended variants
information (count: 734 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549217556	chr5:17491459-17491460	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs182925170	chr5:17491471-17491472	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs528392314	chr5:17491474-17491475	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551474065	chr5:17491478-17491479	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs571660645	chr5:17491495-17491496	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs537122907	chr5:17491528-17491529	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541243935	chr5:17491532-17491533	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs557064683	chr5:17491569-17491570	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs567437109	chr5:17491586-17491587	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs114006052	chr5:17491589-17491590	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553152063	chr5:17491614-17491615	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs573416548	chr5:17491626-17491627	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs61745029	chr5:17491627-17491628	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs2459842	chr5:17491659-17491660	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs541952863	chr5:17491668-17491669	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543528348	chr5:17491688-17491689	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs372725298	chr5:17491702-17491703	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs186479855	chr5:17491729-17491730	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs573804624	chr5:17491773-17491774	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542798613	chr5:17491778-17491779	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs545722944	chr5:17491787-17491788	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs559510396	chr5:17491799-17491800	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs528370671	chr5:17491803-17491804	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs61745031	chr5:17491829-17491830	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs551680206	chr5:17491845-17491846	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565116758	chr5:17491860-17491861	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs569451426	chr5:17491863-17491864	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs530776816	chr5:17491867-17491868	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs377256071	chr5:17491871-17491872	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs550583327	chr5:17491876-17491877	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs200861628	chr5:17491953-17491954	Inactive region	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs564399944	chr5:17491955-17491956	Inactive region	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs567375861	chr5:17491968-17491969	Inactive region	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs536354777	chr5:17491970-17491971	Inactive region	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs546867764	chr5:17491987-17491988	Inactive region	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs191906398	chr5:17492006-17492007	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs538943034	chr5:17492034-17492035	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs73756920	chr5:17492077-17492078	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs143192095	chr5:17492109-17492110	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs576023733	chr5:17492127-17492128	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs537018525	chr5:17492130-17492131	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs557001837	chr5:17492131-17492132	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs573739552	chr5:17492146-17492147	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs542788437	chr5:17492151-17492152	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs187590039	chr5:17492154-17492155	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs573024363	chr5:17492166-17492167	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs544889268	chr5:17492205-17492206	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs35465459	chr5:17492230-17492231	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs192998784	chr5:17492238-17492239	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs543152393	chr5:17492256-17492257	Inactive region	TF binding region Chromatin interactive region	2 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:14 , 50 per page) page: 1

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

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