Variant report

Variant	nsv598296
Chromosome Location	chr5:59733365-59759107
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:59759049-59759883	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:59742744-59743990	HepG2	liver:	n/a	chr5:59743535-59743551
3	ATF3	chr5:59758895-59759556	A549	lung:	n/a	n/a
4	BCL3	chr5:59758832-59759533	A549	lung:	n/a	n/a
5	BCL3	chr5:59758809-59759695	A549	lung:	n/a	chr5:59759578-59759587
6	BHLHE40	chr5:59743262-59743636	HepG2	liver:	n/a	n/a
7	BHLHE40	chr5:59743228-59743638	HepG2	liver:	n/a	n/a
8	BHLHE40	chr5:59758956-59759660	HepG2	liver:	n/a	n/a
9	BHLHE40	chr5:59758972-59759353	A549	lung:	n/a	n/a
10	BHLHE40	chr5:59742844-59743730	HepG2	liver:	n/a	n/a
11	BRCA1	chr5:59758918-59759295	Hela-S3	cervix:	n/a	n/a
12	CCNT2	chr5:59747083-59747168	K562	blood:	n/a	n/a
13	CEBPB	chr5:59738481-59738678	HepG2	liver:	n/a	chr5:59738605-59738616
14	CEBPB	chr5:59758952-59759391	HepG2	liver:	n/a	chr5:59759173-59759184
15	CEBPB	chr5:59758954-59759375	A549	lung:	n/a	chr5:59759173-59759184
16	CEBPB	chr5:59759016-59759277	HepG2	liver:	n/a	chr5:59759173-59759184
17	CEBPB	chr5:59759013-59759326	MCF-7	breast:	n/a	chr5:59759173-59759184
18	CEBPB	chr5:59758995-59759301	K562	blood:	n/a	chr5:59759173-59759184
19	CEBPB	chr5:59758957-59759712	HepG2	liver:	n/a	chr5:59759173-59759184
20	CEBPB	chr5:59744444-59744829	Hela-S3	cervix:	n/a	chr5:59744753-59744765
21	CEBPB	chr5:59759094-59759253	H1-hESC	embryonic stem cell:	n/a	chr5:59759173-59759184
22	CEBPB	chr5:59758780-59759728	A549	lung:	n/a	chr5:59759173-59759184 chr5:59758810-59758822 chr5:59758883-59758895
23	CEBPB	chr5:59758981-59759376	K562	blood:	n/a	chr5:59759173-59759184
24	CEBPB	chr5:59758902-59759356	HepG2	liver:	n/a	chr5:59759173-59759184
25	CEBPB	chr5:59744195-59744769	A549	lung:	n/a	chr5:59744753-59744765
26	CEBPB	chr5:59758926-59759470	Hela-S3	cervix:	n/a	chr5:59759173-59759184
27	CEBPB	chr5:59740891-59741112	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr5:59758865-59759496	A549	lung:	n/a	chr5:59759173-59759184 chr5:59758883-59758895
29	CEBPB	chr5:59758972-59759399	MCF-7	breast:	n/a	chr5:59759173-59759184
30	CEBPB	chr5:59758997-59759365	IMR90	lung:	n/a	chr5:59759173-59759184
31	CHD2	chr5:59759045-59759296	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr5:59754640-59754790	HEEpiC	esophagus:	n/a	n/a
33	CTCF	chr5:59742740-59742890	HepG2	liver:	n/a	n/a
34	CTCF	chr5:59754111-59754159	Fibrobl	skin:	n/a	n/a
35	CTCF	chr5:59754560-59754710	BE2_C	brain:	n/a	n/a
36	CTCF	chr5:59754600-59754750	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr5:59754620-59754770	HEEpiC	esophagus:	n/a	n/a
38	CTCF	chr5:59757960-59758110	GM12875	blood:	n/a	n/a
39	CTCF	chr5:59754583-59754809	MCF-7	breast:	n/a	n/a
40	CTCF	chr5:59754640-59754790	MCF-7	breast:	n/a	n/a
41	CTCF	chr5:59755768-59755822	Lung_OC	lung:	n/a	n/a
42	CTCF	chr5:59754609-59754797	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr5:59754560-59754710	GM12874	blood:	n/a	n/a
44	CTCF	chr5:59754620-59754770	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr5:59754600-59754750	A549	lung:	n/a	n/a
46	CTCF	chr5:59754610-59754792	MCF-7	breast:	n/a	n/a
47	CTCF	chr5:59754600-59754750	K562	blood:	n/a	n/a
48	CTCF	chr5:59754618-59754772	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr5:59742760-59743050	HepG2	liver:	n/a	n/a
50	CTCF	chr5:59754497-59754924	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:59750546..59752966-chr5:59754525..59756849,2	K562	blood:

Variant related genes	Relation type
SETP21	TF binding region
PDE4D	TF binding region
ENSG00000214244	chromatin interactions

Extended variants
information (count: 866 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:866 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs37684	chr5:59733365-59733366	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552577272	chr5:59733372-59733373	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs566105838	chr5:59733383-59733384	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs34961423	chr5:59733483-59733484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575133576	chr5:59733512-59733513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535319519	chr5:59733549-59733550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556871427	chr5:59733642-59733643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192610522	chr5:59733653-59733654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374350666	chr5:59733683-59733684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557288419	chr5:59733712-59733713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575705861	chr5:59733730-59733731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538375886	chr5:59733839-59733840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185558261	chr5:59733842-59733843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542256356	chr5:59733863-59733864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571751638	chr5:59733900-59733901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376709530	chr5:59733904-59733905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542446334	chr5:59733933-59733934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73759053	chr5:59733961-59733962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs561188705	chr5:59733985-59733986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528005642	chr5:59733994-59733995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs16878081	chr5:59734004-59734005	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs34290347	chr5:59734059-59734060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs16878084	chr5:59734124-59734125	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs563494031	chr5:59734174-59734175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76475814	chr5:59734221-59734222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7725629	chr5:59734259-59734260	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs559781038	chr5:59734267-59734268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2963111	chr5:59734289-59734290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564136411	chr5:59734301-59734302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531188755	chr5:59734311-59734312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376889547	chr5:59734318-59734319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111739711	chr5:59734326-59734327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs789395	chr5:59734368-59734369	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs568704078	chr5:59734423-59734424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141801465	chr5:59734495-59734496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144527079	chr5:59734501-59734502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550742799	chr5:59734577-59734578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528907421	chr5:59734598-59734599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs16878086	chr5:59734600-59734601	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs2898278	chr5:59734630-59734631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs571808796	chr5:59734658-59734659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115838375	chr5:59734688-59734689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190034653	chr5:59734714-59734715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs789396	chr5:59734769-59734770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs73759054	chr5:59734789-59734790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs575129401	chr5:59734815-59734816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181622181	chr5:59734818-59734819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577149338	chr5:59734841-59734842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs16878087	chr5:59734856-59734857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs151183185	chr5:59734864-59734865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59727200-59766600	Weak transcription	Primary B cells from cord blood	blood
2	chr5:59732400-59733400	Flanking Active TSS	GM12878-XiMat	blood
3	chr5:59733000-59742600	Weak transcription	Aorta	Aorta
4	chr5:59733200-59738800	Weak transcription	HepG2	liver
5	chr5:59733400-59733800	Enhancers	GM12878-XiMat	blood
6	chr5:59734000-59734400	Enhancers	Fetal Kidney	kidney
7	chr5:59738800-59742800	Enhancers	HepG2	liver
8	chr5:59740000-59741200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:59740000-59741600	Enhancers	Fetal Brain Male	brain
10	chr5:59740200-59740600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:59740400-59741000	Enhancers	Fetal Brain Female	brain
12	chr5:59740400-59741000	Enhancers	Hela-S3	cervix
13	chr5:59740600-59740800	Enhancers	Gastric	stomach
14	chr5:59741000-59744200	Weak transcription	Hela-S3	cervix
15	chr5:59741200-59741600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:59741600-59741800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:59741600-59743200	Enhancers	Stomach Mucosa	stomach
18	chr5:59741600-59744800	Weak transcription	Fetal Brain Male	brain
19	chr5:59741800-59783200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:59742600-59743000	Enhancers	Aorta	Aorta
21	chr5:59742600-59743000	Enhancers	A549	lung
22	chr5:59742600-59744400	Enhancers	Gastric	stomach
23	chr5:59742800-59743200	Flanking Active TSS	HepG2	liver
24	chr5:59743000-59743600	Flanking Active TSS	A549	lung
25	chr5:59743000-59743800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:59743200-59744400	Weak transcription	Stomach Mucosa	stomach
27	chr5:59743200-59745200	Enhancers	HepG2	liver
28	chr5:59743400-59743800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr5:59743600-59744000	Active TSS	A549	lung
30	chr5:59743800-59747600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:59744000-59744200	Enhancers	A549	lung
32	chr5:59744200-59744400	Flanking Active TSS	A549	lung
33	chr5:59744200-59744600	Enhancers	Brain Angular Gyrus	brain
34	chr5:59744200-59744600	Active TSS	Hela-S3	cervix
35	chr5:59744400-59744600	Enhancers	Stomach Mucosa	stomach
36	chr5:59744400-59744800	Enhancers	A549	lung
37	chr5:59745200-59747400	Weak transcription	HepG2	liver
38	chr5:59747400-59750000	Enhancers	HepG2	liver
39	chr5:59747600-59748800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:59749200-59749400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:59749400-59751400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:59749600-59749800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:59749600-59749800	Enhancers	HMEC	breast
44	chr5:59749800-59760600	Weak transcription	Aorta	Aorta
45	chr5:59750000-59751200	Weak transcription	HepG2	liver
46	chr5:59751200-59752600	Enhancers	HepG2	liver
47	chr5:59751400-59752400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:59751600-59752000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:59751600-59752000	Enhancers	HMEC	breast
50	chr5:59751600-59753600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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