Variant report

Variant	esv3381321
Chromosome Location	chr5:17488679-17500639
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:78)
CpG islands
(count:428)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:78 , 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	CTCF	chr5:17491692-17491836	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr5:17491694-17491823	MCF-7	breast:	n/a	n/a
7	CTCF	chr5:17499727-17499747	LNCaP	prostate:	n/a	n/a
8	CTCF	chr5:17495120-17495270	Caco-2	colon:	n/a	n/a
9	CTCF	chr5:17488800-17488950	HPF	lung:	n/a	n/a
10	EBF1	chr5:17490158-17490500	GM12878	blood:	n/a	chr5:17490277-17490290 chr5:17490278-17490289
11	EP300	chr5:17499500-17499859	GM12878	blood:	n/a	n/a
12	EP300	chr5:17498495-17498839	GM12878	blood:	n/a	n/a
13	EP300	chr5:17499644-17499832	GM12878	blood:	n/a	n/a
14	FOSL2	chr5:17499533-17499889	HepG2	liver:	n/a	n/a
15	FOSL2	chr5:17499590-17499879	HepG2	liver:	n/a	n/a
16	FOXA1	chr5:17499599-17499849	HepG2	liver:	n/a	n/a
17	GABPA	chr5:17498435-17498852	Hela-S3	cervix:	n/a	n/a
18	GABPA	chr5:17499505-17499848	Hela-S3	cervix:	n/a	n/a
19	GABPA	chr5:17499623-17499830	Hela-S3	cervix:	n/a	n/a
20	GABPA	chr5:17498469-17498852	Hela-S3	cervix:	n/a	n/a
21	GATA2	chr5:17497535-17497893	SH-SY5Y	brain:	n/a	chr5:17497638-17497654
22	HEY1	chr5:17498501-17498789	K562	blood:	n/a	n/a
23	HEY1	chr5:17499495-17499849	K562	blood:	n/a	n/a
24	IRF4	chr5:17498469-17498838	GM12878	blood:	n/a	n/a
25	IRF4	chr5:17498490-17498797	GM12878	blood:	n/a	n/a
26	IRF4	chr5:17499602-17499882	GM12878	blood:	n/a	n/a
27	IRF4	chr5:17499594-17499869	GM12878	blood:	n/a	n/a
28	JUND	chr5:17498570-17498724	HepG2	liver:	n/a	n/a
29	JUND	chr5:17498564-17498690	HepG2	liver:	n/a	n/a
30	JUND	chr5:17499590-17499846	HepG2	liver:	n/a	n/a
31	MAZ	chr5:17494440-17494508	HepG2	liver:	n/a	n/a
32	PAX5	chr5:17498317-17498857	GM12878	blood:	n/a	n/a
33	PAX5	chr5:17499582-17499884	GM12878	blood:	n/a	n/a
34	PAX5	chr5:17499636-17499835	GM12878	blood:	n/a	n/a
35	PBX3	chr5:17499697-17499819	GM12878	blood:	n/a	n/a
36	POLR2A	chr5:17495145-17495223	K562	blood:	n/a	n/a
37	POLR2A	chr5:17493734-17493799	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr5:17499755-17499764	GM12878	blood:	n/a	n/a
39	POLR2A	chr5:17499572-17499849	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr5:17491576-17491721	MCF-7	breast:	n/a	n/a
41	POLR2A	chr5:17492452-17492655	ProgFib	skin:	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	chr5:17499590-17499903	GM12878	blood:	n/a	n/a
45	RXRA	chr5:17499505-17499893	HepG2	liver:	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

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:17488879-17488929	AoSMC	blood vessel:	n/a
2	chr5:17488879-17488929	AoSMC	blood vessel:	n/a
3	chr5:17488879-17488929	H1-hESC	embryonic stem cell:	embryo
4	chr5:17491941-17491991	GM06990	blood:	n/a
5	chr5:17491469-17491519	ProgFib	skin:	n/a
6	chr5:17488879-17488929	HAEpiC	amniotic membrane:	n/a
7	chr5:17495781-17495831	Hepatocyte	liver:	n/a
8	chr5:17491604-17491654	MCF10A-Er-Src	breast:	n/a
9	chr5:17495781-17495831	PANC-1	pancreas:	n/a
10	chr5:17491604-17491654	HRE	kidney:	n/a
11	chr5:17488879-17488929	PFSK-1	brain:	n/a
12	chr5:17491941-17491991	SKMC	muscle:	n/a
13	chr5:17490778-17490828	AG10803	skin:	n/a
14	chr5:17491604-17491654	GM12892	blood:	n/a
15	chr5:17491604-17491654	GM12878	blood:	n/a
16	chr5:17490778-17490828	HRPEpiC	eye:	n/a
17	chr5:17491586-17491636	HEEpiC	esophagus:	n/a
18	chr5:17495781-17495831	HL-60	blood:	n/a
19	chr5:17495781-17495831	BJ	skin:	n/a
20	chr5:17488879-17488929	HEK293	kidney:	embryo
21	chr5:17491469-17491519	HMEC	breast:	n/a
22	chr5:17488879-17488929	Jurkat	blood:	n/a
23	chr5:17488879-17488929	CMK	blood:	n/a
24	chr5:17490778-17490828	HCF	heart:	n/a
25	chr5:17488879-17488929	T-47D	breast:	n/a
26	chr5:17491586-17491636	HCM	heart:	n/a
27	chr5:17491586-17491636	ovcar-3	ovarian:	n/a
28	chr5:17491469-17491519	HEK293	kidney:	embryo
29	chr5:17491586-17491636	IMR90	lung:	fetal
30	chr5:17490778-17490828	H1-hESC	embryonic stem cell:	embryo
31	chr5:17488879-17488929	HRPEpiC	eye:	n/a
32	chr5:17491941-17491991	HEK293	kidney:	embryo
33	chr5:17491469-17491519	HPAEpiC	pulmonary alveolar:	n/a
34	chr5:17488879-17488929	SK-N-SH_RA	brain:	n/a
35	chr5:17495781-17495831	Jurkat	blood:	n/a
36	chr5:17491604-17491654	HRCEpiC	kidney:	n/a
37	chr5:17491941-17491991	BE2_C	brain:	n/a
38	chr5:17491941-17491991	ECC-1	luminal epithelium:	n/a
39	chr5:17491469-17491519	ovcar-3	ovarian:	n/a
40	chr5:17491586-17491636	SK-N-SH	brain:	n/a
41	chr5:17488879-17488929	HepG2	liver:	n/a
42	chr5:17490778-17490828	AG04450	lung:	fetal
43	chr5:17491469-17491519	SKMC	muscle:	n/a
44	chr5:17490778-17490828	HL-60	blood:	n/a
45	chr5:17491941-17491991	PANC-1	pancreas:	n/a
46	chr5:17491941-17491991	HEEpiC	esophagus:	n/a
47	chr5:17491941-17491991	NHDF-neo	bronchial:	n/a
48	chr5:17490778-17490828	GM19239	blood:	n/a
49	chr5:17490778-17490828	BE2_C	brain:	n/a
50	chr5:17495781-17495831	AG04450	lung:	fetal

(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
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: 429 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76262571	chr5:17488726-17488727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148516422	chr5:17488729-17488730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571098363	chr5:17488743-17488744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115886104	chr5:17488763-17488764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142795144	chr5:17488811-17488812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113466941	chr5:17488817-17488818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537548298	chr5:17488844-17488845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188909388	chr5:17488852-17488853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2457757	chr5:17488857-17488858	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs572209765	chr5:17488870-17488871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533705950	chr5:17488922-17488923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs80260736	chr5:17488944-17488945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549217556	chr5:17491459-17491460	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs182925170	chr5:17491471-17491472	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs528392314	chr5:17491474-17491475	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs551474065	chr5:17491478-17491479	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs571660645	chr5:17491495-17491496	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs537122907	chr5:17491528-17491529	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs541243935	chr5:17491532-17491533	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs557064683	chr5:17491569-17491570	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs567437109	chr5:17491586-17491587	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs114006052	chr5:17491589-17491590	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs553152063	chr5:17491614-17491615	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs573416548	chr5:17491626-17491627	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs61745029	chr5:17491627-17491628	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs2459842	chr5:17491659-17491660	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs541952863	chr5:17491668-17491669	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs543528348	chr5:17491688-17491689	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs372725298	chr5:17491702-17491703	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs186479855	chr5:17491729-17491730	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs573804624	chr5:17491773-17491774	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs542798613	chr5:17491778-17491779	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545722944	chr5:17491787-17491788	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs559510396	chr5:17491799-17491800	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs528370671	chr5:17491803-17491804	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs61745031	chr5:17491829-17491830	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs551680206	chr5:17491845-17491846	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs565116758	chr5:17491860-17491861	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs569451426	chr5:17491863-17491864	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs530776816	chr5:17491867-17491868	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs377256071	chr5:17491871-17491872	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs550583327	chr5:17491876-17491877	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs200861628	chr5:17491953-17491954	Inactive region	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs564399944	chr5:17491955-17491956	Inactive region	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs567375861	chr5:17491968-17491969	Inactive region	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs536354777	chr5:17491970-17491971	Inactive region	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs546867764	chr5:17491987-17491988	Inactive region	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs191906398	chr5:17492006-17492007	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs538943034	chr5:17492034-17492035	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs73756920	chr5:17492077-17492078	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17488200-17489000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:17494400-17496200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr5:17500600-17500800	Enhancers	A549	lung
4	chr5:17500600-17500800	Enhancers	Hela-S3	cervix
5	chr5:17500600-17501000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:17500600-17501000	Active TSS	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links