Variant report

Variant	esv1799904
Chromosome Location	chr20:900831-928425
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	BRCA1	chr20:921731-921791	HepG2	liver:	n/a	n/a
2	CBX3	chr20:912147-912383	HCT-116	colon:	n/a	n/a
3	CEBPB	chr20:928284-928533	A549	lung:	n/a	chr20:928380-928393 chr20:928380-928393 chr20:928382-928393 chr20:928380-928391
4	CEBPB	chr20:905276-905535	HepG2	liver:	n/a	chr20:905412-905423
5	CEBPB	chr20:905306-905575	K562	blood:	n/a	chr20:905412-905423
6	CEBPB	chr20:928245-928495	HepG2	liver:	n/a	chr20:928380-928393 chr20:928380-928393 chr20:928382-928393 chr20:928380-928391
7	CEBPZ	chr20:912151-912386	HepG2	liver:	n/a	n/a
8	CHD2	chr20:925496-925746	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr20:915178-915401	H1-hESC	embryonic stem cell:	n/a	chr20:915287-915305
10	CTCF	chr20:915248-915324	K562	blood:	n/a	chr20:915287-915305
11	CTCF	chr20:920640-920790	GM12871	blood:	n/a	n/a
12	CTCF	chr20:915160-915310	HEK293	kidney:	n/a	chr20:915287-915305
13	CTCF	chr20:915240-915390	WERI-Rb-1	eye:	n/a	chr20:915287-915305
14	CTCF	chr20:915063-915450	H1-hESC	embryonic stem cell:	n/a	chr20:915287-915305
15	CTCF	chr20:915223-915307	K562	blood:	n/a	chr20:915287-915305
16	CTCF	chr20:920740-920890	HepG2	liver:	n/a	n/a
17	CTCF	chr20:915056-915452	H1-hESC	embryonic stem cell:	n/a	chr20:915287-915305
18	EBF1	chr20:907499-907707	GM12878	blood:	n/a	n/a
19	FOS	chr20:901067-901267	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr20:900993-901267	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr20:900993-901300	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr20:900993-901322	MCF10A-Er-Src	breast:	n/a	n/a
23	GATA1	chr20:913654-914090	K562	blood:	n/a	n/a
24	GATA1	chr20:913628-913961	PBDE	blood:	n/a	n/a
25	GTF2F1	chr20:915170-915322	H1-hESC	embryonic stem cell:	n/a	n/a
26	IRF1	chr20:913718-914084	K562	blood:	n/a	chr20:913901-913915 chr20:913901-913911 chr20:913893-913913 chr20:913899-913912 chr20:913901-913912 chr20:913897-913911 chr20:913899-913912 chr20:913895-913916 chr20:913900-913917 chr20:913898-913915 chr20:913902-913913 chr20:913898-913912 chr20:913900-913912 chr20:913899-913912
27	IRF1	chr20:913716-914094	K562	blood:	n/a	chr20:913901-913915 chr20:913901-913911 chr20:913893-913913 chr20:913899-913912 chr20:913901-913912 chr20:913897-913911 chr20:913899-913912 chr20:913895-913916 chr20:913900-913917 chr20:913898-913915 chr20:913902-913913 chr20:913898-913912 chr20:913900-913912 chr20:913899-913912
28	IRF1	chr20:913725-913992	K562	blood:	n/a	chr20:913901-913915 chr20:913901-913911 chr20:913893-913913 chr20:913899-913912 chr20:913901-913912 chr20:913897-913911 chr20:913899-913912 chr20:913895-913916 chr20:913900-913917 chr20:913898-913915 chr20:913902-913913 chr20:913898-913912 chr20:913900-913912 chr20:913899-913912
29	KAP1	chr20:911996-912398	K562	blood:	n/a	n/a
30	MAFF	chr20:905409-905579	HepG2	liver:	n/a	chr20:905517-905535
31	MAFK	chr20:905387-905573	HepG2	liver:	n/a	chr20:905519-905534
32	MAFK	chr20:905424-905595	HepG2	liver:	n/a	chr20:905519-905534
33	MAX	chr20:905338-905717	NB4	blood:	n/a	chr20:905535-905545
34	MAX	chr20:905449-905624	H1-hESC	embryonic stem cell:	n/a	chr20:905535-905545
35	MAX	chr20:905530-905595	K562	blood:	n/a	chr20:905535-905545
36	MAZ	chr20:912222-912239	HepG2	liver:	n/a	n/a
37	MYC	chr20:901323-901437	H1-hESC	embryonic stem cell:	n/a	n/a
38	NFYB	chr20:928363-928544	K562	blood:	n/a	chr20:928397-928411 chr20:928396-928408 chr20:928397-928412 chr20:928397-928412 chr20:928399-928409 chr20:928397-928410
39	RAD21	chr20:915129-915503	H1-hESC	embryonic stem cell:	n/a	n/a
40	RAD21	chr20:915124-915496	H1-hESC	embryonic stem cell:	n/a	n/a
41	RAD21	chr20:915024-915515	H1-hESC	embryonic stem cell:	n/a	n/a
42	RCOR1	chr20:913699-913945	K562	blood:	n/a	n/a
43	SETDB1	chr20:911586-912789	U2OS	brain:	n/a	n/a
44	STAT3	chr20:900989-901111	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr20:910490-910648	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr20:919696-919838	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr20:923457-923493	MCF10A-Er-Src	breast:	n/a	n/a
48	TAL1	chr20:913727-913957	K562	blood:	n/a	n/a
49	TCF12	chr20:915226-915480	H1-hESC	embryonic stem cell:	n/a	n/a
50	TEAD4	chr20:925423-925757	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:899077..901728-chr20:908752..911161,2	K562	blood:
2	chr20:897191..899627-chr20:903602..905719,2	MCF-7	breast:
3	chr20:914281..915061-chr3:49059512..49060483,2	NB4	blood:
4	chr20:836809..839072-chr20:903298..905274,2	K562	blood:
5	chr20:847957..850389-chr20:899044..901532,2	K562	blood:
6	chr20:925330..928261-chr20:941058..943608,3	K562	blood:
7	chr20:899077..901728-chr20:908752..911161,2	K562	blood:
8	chr20:921972..923694-chr20:931266..933420,2	K562	blood:

Variant related genes	Relation type
ANGPT4	TF binding region
ENSG00000178149	chromatin interactions
ENSG00000178057	chromatin interactions

Extended variants
information (count: 1262 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1262 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs501322	chr20:900831-900832	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532530526	chr20:900844-900845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375279162	chr20:900847-900848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541496119	chr20:900884-900885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192143904	chr20:900890-900891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183302918	chr20:900899-900900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs57607035	chr20:900934-900935	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs519304	chr20:900935-900936	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs561607515	chr20:900954-900955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77489325	chr20:901034-901035	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs575409174	chr20:901050-901051	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs186592478	chr20:901053-901054	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs543775734	chr20:901054-901055	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs78915011	chr20:901062-901063	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs190600461	chr20:901088-901089	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs59324268	chr20:901125-901126	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs571332701	chr20:901128-901129	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs536624493	chr20:901131-901132	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs371690032	chr20:901157-901158	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs183068913	chr20:901169-901170	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs570358290	chr20:901170-901171	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs76484532	chr20:901207-901208	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs142690502	chr20:901240-901241	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs374948738	chr20:901245-901246	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs572625506	chr20:901256-901257	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs535241921	chr20:901257-901258	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs79466299	chr20:901269-901270	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs147343524	chr20:901284-901285	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs543451784	chr20:901285-901286	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs566261287	chr20:901306-901307	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs563744818	chr20:901307-901308	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs528826996	chr20:901313-901314	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs570406307	chr20:901330-901331	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs8121847	chr20:901332-901333	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs367683917	chr20:901341-901342	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs559247009	chr20:901348-901349	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs138564334	chr20:901349-901350	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs551584025	chr20:901354-901355	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs564805174	chr20:901359-901360	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs188086430	chr20:901398-901399	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs550295927	chr20:901404-901405	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs567228989	chr20:901405-901406	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs192754347	chr20:901424-901425	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs549670187	chr20:901459-901460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566411598	chr20:901472-901473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534884514	chr20:901477-901478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77451459	chr20:901525-901526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571641916	chr20:901528-901529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34501668	chr20:901600-901601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116419578	chr20:901619-901620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Glioblastoma multiforme	22286061	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	19455253	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17603634	CNVD
Colorectal cancer	19359472	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16774939	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	17426248	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:897000-903600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr20:897000-905000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr20:897400-954200	Weak transcription	Right Atrium	heart
4	chr20:897800-903200	Weak transcription	Adipose Nuclei	Adipose
5	chr20:898000-903400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr20:898800-903200	Weak transcription	Ovary	ovary
7	chr20:899000-901600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr20:899200-901600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr20:901600-903200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr20:901600-903200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr20:903200-903400	Bivalent Enhancer	Right Ventricle	heart
12	chr20:903200-903600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr20:903200-903800	Enhancers	Adipose Nuclei	Adipose
14	chr20:903200-904000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr20:903200-904400	Enhancers	Ovary	ovary
16	chr20:903200-906400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr20:903400-903600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr20:903400-903600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr20:903400-903600	Enhancers	Duodenum Mucosa	Duodenum
20	chr20:903400-903600	Enhancers	Fetal Muscle Leg	muscle
21	chr20:903400-903600	Enhancers	Left Ventricle	heart
22	chr20:903400-903600	Enhancers	Right Ventricle	heart
23	chr20:903400-903600	Enhancers	Spleen	Spleen
24	chr20:903400-903800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr20:903400-903800	Enhancers	Fetal Muscle Trunk	muscle
26	chr20:903600-903800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr20:903600-903800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr20:903600-904800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr20:903800-904800	Weak transcription	Adipose Nuclei	Adipose
30	chr20:903800-905000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr20:903800-905000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr20:904000-904400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr20:904400-905000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr20:904400-905600	Weak transcription	Ovary	ovary
35	chr20:904800-907600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr20:904800-907600	Enhancers	Adipose Nuclei	Adipose
37	chr20:905000-905200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr20:905000-905600	Enhancers	Duodenum Mucosa	Duodenum
39	chr20:905000-905800	Enhancers	HepG2	liver
40	chr20:905000-905800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr20:905000-906000	Enhancers	Fetal Intestine Small	intestine
42	chr20:905000-906200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr20:905200-905600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr20:905600-905800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr20:905600-906000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr20:905600-906200	Enhancers	Ovary	ovary
47	chr20:905800-906200	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr20:905800-906800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr20:906000-913200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr20:906200-906600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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