Variant report

Variant	esv3469264
Chromosome Location	chr5:59947720-59949292
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	BACH1	chr5:59948213-59948360	K562	blood:	n/a	n/a
2	CBX3	chr5:59949056-59949287	K562	blood:	n/a	n/a
3	CEBPB	chr5:59948015-59948330	K562	blood:	n/a	chr5:59948192-59948203
4	CEBPB	chr5:59947859-59948500	A549	lung:	n/a	chr5:59948192-59948203
5	CEBPB	chr5:59948060-59948362	HepG2	liver:	n/a	chr5:59948192-59948203
6	CEBPB	chr5:59947390-59948442	IMR90	lung:	n/a	chr5:59948192-59948203
7	CEBPB	chr5:59947984-59948374	K562	blood:	n/a	chr5:59948192-59948203
8	CEBPB	chr5:59947835-59948505	MCF-7	breast:	n/a	chr5:59948192-59948203
9	CEBPB	chr5:59947994-59948374	K562	blood:	n/a	chr5:59948192-59948203
10	CEBPB	chr5:59947986-59948470	HCT-116	colon:	n/a	chr5:59948192-59948203
11	CEBPB	chr5:59948006-59948383	A549	lung:	n/a	chr5:59948192-59948203
12	CEBPB	chr5:59947819-59948439	MCF-7	breast:	n/a	chr5:59948192-59948203
13	CEBPB	chr5:59948016-59948391	Hela-S3	cervix:	n/a	chr5:59948192-59948203
14	CEBPB	chr5:59947973-59948387	A549	lung:	n/a	chr5:59948192-59948203
15	CTCF	chr5:59948980-59949130	NHDF-neo	bronchial:	n/a	n/a
16	CTCF	chr5:59948020-59948170	HBMEC	blood vessel:	n/a	n/a
17	CTCF	chr5:59949060-59949210	NHDF-neo	bronchial:	n/a	n/a
18	EP300	chr5:59948192-59948358	K562	blood:	n/a	n/a
19	FOS	chr5:59948060-59948458	MCF10A-Er-Src	breast:	n/a	chr5:59948263-59948274
20	FOS	chr5:59948026-59948483	MCF10A-Er-Src	breast:	n/a	chr5:59948263-59948274
21	FOS	chr5:59948042-59948459	MCF10A-Er-Src	breast:	n/a	chr5:59948263-59948274
22	FOS	chr5:59948040-59948472	HUVEC	blood vessel:	n/a	chr5:59948263-59948274
23	FOS	chr5:59948038-59948450	MCF10A-Er-Src	breast:	n/a	chr5:59948263-59948274
24	FOSL1	chr5:59948005-59948477	HCT-116	colon:	n/a	n/a
25	FOSL2	chr5:59947971-59948512	MCF-7	breast:	n/a	n/a
26	FOSL2	chr5:59947962-59948478	MCF-7	breast:	n/a	n/a
27	FOSL2	chr5:59947940-59948567	SK-N-SH	brain:	n/a	n/a
28	FOSL2	chr5:59948083-59948390	A549	lung:	n/a	n/a
29	FOSL2	chr5:59948004-59948479	A549	lung:	n/a	n/a
30	GATA3	chr5:59947934-59948451	SK-N-SH	brain:	n/a	n/a
31	GTF2F1	chr5:59949203-59949232	H1-hESC	embryonic stem cell:	n/a	n/a
32	IRF1	chr5:59948146-59948381	K562	blood:	n/a	n/a
33	JUN	chr5:59947935-59948476	K562	blood:	n/a	n/a
34	JUN	chr5:59948067-59948423	Hela-S3	cervix:	n/a	n/a
35	JUN	chr5:59948084-59948421	K562	blood:	n/a	n/a
36	JUND	chr5:59947932-59948469	SK-N-SH	brain:	n/a	chr5:59948263-59948274
37	JUND	chr5:59948065-59948455	Hela-S3	cervix:	n/a	chr5:59948263-59948274
38	JUND	chr5:59948013-59948454	K562	blood:	n/a	chr5:59948263-59948274
39	JUND	chr5:59947923-59948557	SK-N-SH	brain:	n/a	chr5:59948263-59948274
40	JUND	chr5:59948102-59948403	HepG2	liver:	n/a	chr5:59948263-59948274
41	JUND	chr5:59947887-59948606	SK-N-SH	brain:	n/a	chr5:59948263-59948274
42	MAFF	chr5:59948102-59948392	K562	blood:	n/a	n/a
43	MAFK	chr5:59947791-59948401	IMR90	lung:	n/a	n/a
44	MAFK	chr5:59948111-59948404	K562	blood:	n/a	n/a
45	MAFK	chr5:59947808-59947873	HepG2	liver:	n/a	n/a
46	MYC	chr5:59948081-59948402	MCF10A-Er-Src	breast:	n/a	n/a
47	MYC	chr5:59948090-59948352	MCF10A-Er-Src	breast:	n/a	n/a
48	NFYB	chr5:59948105-59948351	Hela-S3	cervix:	n/a	n/a
49	PBX3	chr5:59947939-59948447	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr5:59948043-59948332	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:59942675..59945605-chr5:59945905..59947831,2	K562	blood:

Variant related genes	Relation type
DEPDC1B	TF binding region
ENSG00000035499	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 94 )

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	rs574609268	chr5:59947730-59947731	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs543546429	chr5:59947745-59947746	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs533305539	chr5:59947764-59947765	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs370083487	chr5:59947902-59947903	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs563611147	chr5:59947940-59947941	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs181801437	chr5:59947971-59947972	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs552281811	chr5:59947995-59947996	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs186115822	chr5:59948012-59948013	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs149965805	chr5:59948030-59948031	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs548813595	chr5:59948060-59948061	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs568703553	chr5:59948127-59948128	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs190833339	chr5:59948157-59948158	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs79327911	chr5:59948232-59948233	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs4538566	chr5:59948351-59948352	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs4538567	chr5:59948355-59948356	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs558220407	chr5:59948361-59948362	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs565659674	chr5:59948372-59948373	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs4504343	chr5:59948395-59948396	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs533736741	chr5:59948406-59948407	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs373919795	chr5:59948430-59948431	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs181700521	chr5:59948459-59948460	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs554429275	chr5:59948510-59948511	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs144988104	chr5:59948532-59948533	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs543251662	chr5:59948534-59948535	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs117396970	chr5:59948535-59948536	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs368646113	chr5:59948545-59948546	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs186712561	chr5:59948569-59948570	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs375544030	chr5:59948653-59948654	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs191060179	chr5:59948736-59948737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559451824	chr5:59948808-59948809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528477155	chr5:59948814-59948815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142213854	chr5:59948819-59948820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369588020	chr5:59948846-59948847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182904408	chr5:59948876-59948877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531169440	chr5:59948887-59948888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144297098	chr5:59948919-59948920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569735016	chr5:59948925-59948926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115246530	chr5:59948936-59948937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375986720	chr5:59948938-59948939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187450847	chr5:59948976-59948977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112222086	chr5:59948996-59948997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79201049	chr5:59949012-59949013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372742441	chr5:59949048-59949049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190895331	chr5:59949066-59949067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556847329	chr5:59949068-59949069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183442994	chr5:59949096-59949097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546013149	chr5:59949099-59949100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535455889	chr5:59949145-59949146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114181917	chr5:59949158-59949159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141231349	chr5:59949164-59949165	Weak transcription Enhancers	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
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59920600-59947800	Weak transcription	HUVEC	blood vessel
2	chr5:59926400-59967800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:59929400-59954600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:59929600-59948000	Weak transcription	NHEK	skin
5	chr5:59933400-59965200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:59933600-59981000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:59936600-59961400	Weak transcription	Thymus	Thymus
8	chr5:59936800-59961800	Weak transcription	Fetal Thymus	thymus
9	chr5:59940400-59947800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:59940400-59947800	Weak transcription	HSMM	muscle
11	chr5:59940600-59948000	Weak transcription	K562	blood
12	chr5:59940600-59950200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr5:59942800-59952000	Weak transcription	Dnd41	blood
14	chr5:59942800-59961600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:59943400-59947800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:59943400-59952400	Weak transcription	Placenta	Placenta
17	chr5:59943400-59977000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr5:59943800-59952600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:59944400-59952400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:59945000-59961800	Weak transcription	HepG2	liver
21	chr5:59946400-59952400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:59946800-59947800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:59947000-59947800	Enhancers	NHLF	lung
24	chr5:59947200-59948600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr5:59947400-59947800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr5:59947400-59947800	Enhancers	NH-A	brain
27	chr5:59947400-59947800	Enhancers	NHDF-Ad	bronchial
28	chr5:59947400-59947800	Enhancers	Osteobl	bone
29	chr5:59947400-59948400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr5:59947400-59948800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:59947400-59949000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr5:59947600-59947800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:59947600-59947800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:59947600-59948200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:59947600-59948200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:59947600-59948200	Enhancers	Placenta Amnion	Placenta Amnion
37	chr5:59947600-59948200	ZNF genes & repeats	A549	lung
38	chr5:59947600-59948200	Enhancers	HMEC	breast
39	chr5:59947600-59948600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:59947800-59948000	Flanking Active TSS	NHLF	lung
41	chr5:59947800-59948200	Enhancers	H9 Cell Line	embryonic stem cell
42	chr5:59947800-59948200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:59947800-59948200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:59947800-59948200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:59947800-59948200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:59947800-59948200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr5:59947800-59948200	Flanking Active TSS	NH-A	brain
48	chr5:59947800-59948200	Flanking Active TSS	NHDF-Ad	bronchial
49	chr5:59947800-59948200	Flanking Active TSS	Osteobl	bone
50	chr5:59947800-59948400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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