Variant report

Variant	esv3381671
Chromosome Location	chr4:59876235-59903160
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	BATF	chr4:59899806-59900046	GM12878	blood:	n/a	chr4:59899946-59899957
2	BHLHE40	chr4:59899851-59900022	GM12878	blood:	n/a	n/a
3	CEBPB	chr4:59900090-59900198	A549	lung:	n/a	n/a
4	CTCF	chr4:59879843-59879867	LNCaP	prostate:	n/a	n/a
5	E2F4	chr4:59881248-59881801	MCF10A-Er-Src	breast:	n/a	n/a
6	E2F4	chr4:59891505-59891664	MCF10A-Er-Src	breast:	n/a	n/a
7	EBF1	chr4:59899769-59900066	GM12878	blood:	n/a	n/a
8	FOS	chr4:59899825-59900117	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr4:59899874-59900117	MCF10A-Er-Src	breast:	n/a	n/a
10	FOSL2	chr4:59899759-59900236	A549	lung:	n/a	n/a
11	GATA3	chr4:59900424-59900624	SH-SY5Y	brain:	n/a	n/a
12	GATA3	chr4:59902375-59902550	SH-SY5Y	brain:	n/a	n/a
13	JUN	chr4:59878843-59878874	H1-hESC	embryonic stem cell:	n/a	n/a
14	JUN	chr4:59899815-59900064	HepG2	liver:	n/a	n/a
15	JUND	chr4:59899810-59900278	SK-N-SH	brain:	n/a	chr4:59899944-59899955
16	JUND	chr4:59883058-59883303	HepG2	liver:	n/a	n/a
17	JUND	chr4:59899774-59900237	GM12878	blood:	n/a	chr4:59899944-59899955
18	JUND	chr4:59899780-59900124	HepG2	liver:	n/a	chr4:59899944-59899955
19	MAFF	chr4:59890023-59890234	K562	blood:	n/a	chr4:59890167-59890185
20	MAFF	chr4:59889986-59890355	HepG2	liver:	n/a	chr4:59890167-59890185
21	MAFF	chr4:59896277-59896591	HepG2	liver:	n/a	chr4:59896434-59896452
22	MAFF	chr4:59896347-59896515	K562	blood:	n/a	chr4:59896434-59896452
23	MAFK	chr4:59889994-59890352	HepG2	liver:	n/a	chr4:59890173-59890184 chr4:59890173-59890184 chr4:59890172-59890183 chr4:59890171-59890185 chr4:59890168-59890183 chr4:59890172-59890183
24	MAFK	chr4:59896375-59896461	Hela-S3	cervix:	n/a	chr4:59896435-59896450
25	MAFK	chr4:59890052-59890252	K562	blood:	n/a	chr4:59890173-59890184 chr4:59890173-59890184 chr4:59890172-59890183 chr4:59890171-59890185 chr4:59890168-59890183 chr4:59890172-59890183
26	MAFK	chr4:59896263-59896596	HepG2	liver:	n/a	chr4:59896435-59896450
27	MAFK	chr4:59890042-59890332	H1-hESC	embryonic stem cell:	n/a	chr4:59890173-59890184 chr4:59890173-59890184 chr4:59890172-59890183 chr4:59890171-59890185 chr4:59890168-59890183 chr4:59890172-59890183
28	MAFK	chr4:59886970-59887153	HepG2	liver:	n/a	n/a
29	MAFK	chr4:59896288-59896595	IMR90	lung:	n/a	chr4:59896435-59896450
30	MAFK	chr4:59889999-59890347	IMR90	lung:	n/a	chr4:59890173-59890184 chr4:59890173-59890184 chr4:59890172-59890183 chr4:59890171-59890185 chr4:59890168-59890183 chr4:59890172-59890183
31	MAFK	chr4:59896286-59896594	HepG2	liver:	n/a	chr4:59896435-59896450
32	MAFK	chr4:59889993-59890324	HepG2	liver:	n/a	chr4:59890173-59890184 chr4:59890173-59890184 chr4:59890172-59890183 chr4:59890171-59890185 chr4:59890168-59890183 chr4:59890172-59890183
33	MAX	chr4:59899921-59899999	NB4	blood:	n/a	n/a
34	MAZ	chr4:59897389-59897474	HepG2	liver:	n/a	n/a
35	MAZ	chr4:59888381-59888393	HepG2	liver:	n/a	n/a
36	NFYB	chr4:59881502-59881684	GM12878	blood:	n/a	n/a
37	POLR2A	chr4:59879885-59879904	GM12878	blood:	n/a	n/a
38	POLR2A	chr4:59878659-59878688	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr4:59895146-59895344	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr4:59901432-59901622	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr4:59896287-59896487	MCF10A-Er-Src	breast:	n/a	n/a
42	TCF7L2	chr4:59900365-59900700	HepG2	liver:	n/a	n/a
43	USF1	chr4:59899769-59900011	A549	lung:	n/a	n/a
44	USF1	chr4:59899747-59900061	A549	lung:	n/a	n/a
45	USF1	chr4:59899730-59900074	A549	lung:	n/a	n/a
46	USF2	chr4:59899821-59900045	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POLR2B-6	chr4:59879291-59879343	XLOC_003551

Variant related genes	Relation type
ENSG00000251266	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115441881	chr4:59878675-59878676	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs572619992	chr4:59878843-59878844	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs377051730	chr4:59879294-59879295	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs192164870	chr4:59879328-59879329	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs185839177	chr4:59891838-59891839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113290512	chr4:59891875-59891876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371600249	chr4:59891879-59891880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557372788	chr4:59891922-59891923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138964932	chr4:59891941-59891942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552402419	chr4:59891962-59891963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554646020	chr4:59892045-59892046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575987098	chr4:59892050-59892051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537061116	chr4:59892055-59892056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373632689	chr4:59892071-59892072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182545550	chr4:59892078-59892079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541247919	chr4:59892124-59892125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186405965	chr4:59892197-59892198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530750119	chr4:59899419-59899420	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs149108197	chr4:59899442-59899443	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs6854276	chr4:59899445-59899446	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs547283445	chr4:59899459-59899460	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs577724521	chr4:59899466-59899467	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs536025742	chr4:59899472-59899473	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs191401488	chr4:59899500-59899501	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs569724629	chr4:59899505-59899506	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs536699240	chr4:59899538-59899539	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs558238563	chr4:59899542-59899543	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs60604368	chr4:59899581-59899582	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs556047554	chr4:59899604-59899605	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs144796107	chr4:59899615-59899616	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs534335007	chr4:59899626-59899627	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs552824185	chr4:59899647-59899648	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs574424628	chr4:59899681-59899682	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs373272378	chr4:59899688-59899689	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs541996730	chr4:59899720-59899721	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs544944834	chr4:59899730-59899731	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs563385124	chr4:59899836-59899837	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs2132344	chr4:59899841-59899842	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs182616313	chr4:59899855-59899856	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs28792511	chr4:59899856-59899857	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs528466962	chr4:59899870-59899871	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs28896231	chr4:59899876-59899877	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs562353994	chr4:59899922-59899923	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs529602167	chr4:59899929-59899930	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs577666902	chr4:59899961-59899962	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs138649815	chr4:59899976-59899977	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs569310305	chr4:59899989-59899990	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs79558738	chr4:59900018-59900019	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs551827355	chr4:59900088-59900089	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs533593117	chr4:59900100-59900101	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:59891800-59892200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:59899400-59900200	Active TSS	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links