Variant report

Variant	nsv544212
Chromosome Location	chr20:22233715-22256861
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	CEBPB	chr20:22239607-22239926	HepG2	liver:	n/a	chr20:22239634-22239643 chr20:22239794-22239806 chr20:22239762-22239773
2	CEBPB	chr20:22238548-22238902	H1-hESC	embryonic stem cell:	n/a	chr20:22238738-22238751 chr20:22238738-22238749 chr20:22238740-22238749 chr20:22238739-22238750
3	CEBPB	chr20:22241013-22241767	HepG2	liver:	n/a	chr20:22241159-22241170
4	CEBPB	chr20:22254965-22255438	A549	lung:	n/a	n/a
5	CEBPB	chr20:22254994-22255345	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr20:22238571-22238899	A549	lung:	n/a	chr20:22238738-22238751 chr20:22238738-22238749 chr20:22238740-22238749 chr20:22238739-22238750
7	CEBPB	chr20:22255028-22255328	K562	blood:	n/a	n/a
8	CEBPB	chr20:22238567-22238924	HepG2	liver:	n/a	chr20:22238738-22238751 chr20:22238738-22238749 chr20:22238740-22238749 chr20:22238739-22238750
9	CEBPB	chr20:22239647-22239913	A549	lung:	n/a	chr20:22239794-22239806 chr20:22239762-22239773
10	CEBPB	chr20:22255019-22255293	MCF-7	breast:	n/a	n/a
11	CEBPB	chr20:22249698-22249824	HepG2	liver:	n/a	chr20:22249737-22249748
12	CEBPB	chr20:22241470-22241749	A549	lung:	n/a	n/a
13	CEBPB	chr20:22254991-22255364	HepG2	liver:	n/a	n/a
14	CEBPB	chr20:22255003-22255283	A549	lung:	n/a	n/a
15	CEBPB	chr20:22254996-22255349	A549	lung:	n/a	n/a
16	CEBPB	chr20:22254983-22255252	HepG2	liver:	n/a	n/a
17	CEBPB	chr20:22238568-22238926	IMR90	lung:	n/a	chr20:22238738-22238751 chr20:22238738-22238749 chr20:22238740-22238749 chr20:22238739-22238750
18	CEBPB	chr20:22238580-22238825	MCF-7	breast:	n/a	chr20:22238738-22238751 chr20:22238738-22238749 chr20:22238740-22238749 chr20:22238739-22238750
19	CEBPB	chr20:22241014-22241253	A549	lung:	n/a	chr20:22241159-22241170
20	CEBPB	chr20:22238575-22238854	K562	blood:	n/a	chr20:22238738-22238751 chr20:22238738-22238749 chr20:22238740-22238749 chr20:22238739-22238750
21	CTCF	chr20:22253146-22253234	Pancreas_OC	pancreas:	n/a	n/a
22	CTCF	chr20:22252968-22252992	Lung_OC	lung:	n/a	n/a
23	CTCF	chr20:22247080-22247230	GM12875	blood:	n/a	n/a
24	FOS	chr20:22245693-22246073	MCF10A-Er-Src	breast:	n/a	chr20:22246023-22246035 chr20:22245807-22245816 chr20:22245805-22245817 chr20:22245807-22245815 chr20:22246025-22246032 chr20:22245803-22245814 chr20:22245808-22245815 chr20:22246025-22246034
25	FOS	chr20:22245659-22246111	MCF10A-Er-Src	breast:	n/a	chr20:22246023-22246035 chr20:22245807-22245816 chr20:22245805-22245817 chr20:22245807-22245815 chr20:22246025-22246032 chr20:22245803-22245814 chr20:22245808-22245815 chr20:22246025-22246034
26	FOS	chr20:22245665-22246192	MCF10A-Er-Src	breast:	n/a	chr20:22246023-22246035 chr20:22245807-22245816 chr20:22245805-22245817 chr20:22245807-22245815 chr20:22246025-22246032 chr20:22245803-22245814 chr20:22245808-22245815 chr20:22246025-22246034
27	FOS	chr20:22245692-22246202	MCF10A-Er-Src	breast:	n/a	chr20:22246023-22246035 chr20:22245807-22245816 chr20:22245805-22245817 chr20:22245807-22245815 chr20:22246025-22246032 chr20:22245803-22245814 chr20:22245808-22245815 chr20:22246025-22246034
28	JUN	chr20:22249372-22249653	HepG2	liver:	n/a	chr20:22249507-22249520
29	JUN	chr20:22255084-22255291	HepG2	liver:	n/a	chr20:22255172-22255185
30	JUND	chr20:22249336-22249702	HepG2	liver:	n/a	n/a
31	JUND	chr20:22255105-22255261	HepG2	liver:	n/a	n/a
32	JUND	chr20:22245711-22246160	HepG2	liver:	n/a	chr20:22246023-22246035 chr20:22245807-22245816 chr20:22245805-22245817 chr20:22245805-22245816 chr20:22245807-22245815 chr20:22246025-22246032 chr20:22245803-22245814 chr20:22245808-22245815 chr20:22246025-22246034
33	MAX	chr20:22255056-22255254	NB4	blood:	n/a	chr20:22255130-22255137 chr20:22255128-22255138
34	MAZ	chr20:22247765-22247783	HepG2	liver:	n/a	n/a
35	MYC	chr20:22245621-22245989	MCF10A-Er-Src	breast:	n/a	chr20:22245806-22245815 chr20:22245797-22245804 chr20:22245791-22245810 chr20:22245796-22245805 chr20:22245796-22245805 chr20:22245668-22245677
36	MYC	chr20:22245590-22246176	MCF10A-Er-Src	breast:	n/a	chr20:22245806-22245815 chr20:22245797-22245804 chr20:22245791-22245810 chr20:22245796-22245805 chr20:22245796-22245805 chr20:22245668-22245677
37	NFYB	chr20:22237867-22238217	K562	blood:	n/a	n/a
38	NFYB	chr20:22237918-22238135	GM12878	blood:	n/a	n/a
39	POLR2A	chr20:22237738-22237777	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr20:22246681-22246856	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr20:22240037-22240107	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr20:22239369-22239537	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr20:22237176-22237317	MCF10A-Er-Src	breast:	n/a	n/a
44	RFX5	chr20:22248808-22248825	HepG2	liver:	n/a	n/a
45	STAT3	chr20:22250425-22250584	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr20:22238796-22239167	MCF10A-Er-Src	breast:	n/a	n/a
47	TCF7L2	chr20:22246177-22246377	HepG2	liver:	n/a	n/a
48	USF1	chr20:22237925-22238120	H1-hESC	embryonic stem cell:	n/a	n/a
49	USF1	chr20:22237928-22238239	H1-hESC	embryonic stem cell:	n/a	n/a
50	USF2	chr20:22255095-22255098	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FOXA2-13	chr20:22252690-22254092	NONHSAT078968
2	lnc-FOXA2-8	chr20:22255046-22255149	NONHSAT078967
3	lnc-FOXA2-8	chr20:22255046-22255184	XLOC_013679
4	lnc-FOXA2-8	chr20:22243347-22243872	NONHSAT078967

Variant related genes	Relation type
ENSG00000225170	TF binding region
UBE2F	miRNA target sites

Extended variants
information (count: 628 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:628 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145204431	chr20:22240811-22240812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs116359453	chr20:22240871-22240872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6082658	chr20:22240893-22240894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373146737	chr20:22240911-22240912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531438230	chr20:22240976-22240977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536414314	chr20:22240980-22240981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548331248	chr20:22240990-22240991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562063967	chr20:22241005-22241006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140849583	chr20:22241014-22241015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537734509	chr20:22241022-22241023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7265696	chr20:22241043-22241044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181722296	chr20:22241081-22241082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs804687	chr20:22241100-22241101	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs6047980	chr20:22241137-22241138	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs570345851	chr20:22241157-22241158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138675323	chr20:22241182-22241183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574459651	chr20:22241196-22241197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571550504	chr20:22241225-22241226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533929747	chr20:22241238-22241239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539065225	chr20:22241239-22241240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560818955	chr20:22241254-22241255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577923689	chr20:22241313-22241314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140502898	chr20:22241370-22241371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs17814988	chr20:22241403-22241404	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs73899961	chr20:22241424-22241425	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs572177313	chr20:22241434-22241435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1337908	chr20:22241466-22241467	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs145643709	chr20:22241509-22241510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541661727	chr20:22241557-22241558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138270715	chr20:22241558-22241559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7266078	chr20:22241600-22241601	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs376922657	chr20:22241712-22241713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547915349	chr20:22241732-22241733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78944212	chr20:22241811-22241812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533398391	chr20:22241813-22241814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550162853	chr20:22241893-22241894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554725698	chr20:22241904-22241905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570381718	chr20:22241936-22241937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529711031	chr20:22241980-22241981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576601876	chr20:22242005-22242006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370432581	chr20:22242006-22242007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536109309	chr20:22242012-22242013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549404804	chr20:22242025-22242026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566312147	chr20:22242028-22242029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543755505	chr20:22242057-22242058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142876871	chr20:22242078-22242079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565610638	chr20:22242124-22242125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553487008	chr20:22242148-22242149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144320459	chr20:22242215-22242216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148344990	chr20:22242222-22242223	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
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
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cancer	20164919	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22240800-22241600	Enhancers	Fetal Stomach	stomach
2	chr20:22241000-22242000	Enhancers	Dnd41	blood
3	chr20:22241000-22242200	Enhancers	Colon Smooth Muscle	Colon
4	chr20:22241000-22242200	Enhancers	Fetal Lung	lung
5	chr20:22241000-22242600	Enhancers	Rectal Smooth Muscle	rectum
6	chr20:22241200-22241400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr20:22241200-22241800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr20:22242600-22251200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr20:22248600-22249600	Enhancers	Dnd41	blood
10	chr20:22251000-22252400	Enhancers	Stomach Smooth Muscle	stomach
11	chr20:22251000-22252600	Enhancers	Fetal Stomach	stomach
12	chr20:22251200-22251800	Enhancers	Colon Smooth Muscle	Colon
13	chr20:22251200-22251800	Enhancers	Rectal Smooth Muscle	rectum
14	chr20:22254800-22255200	Enhancers	HSMMtube	muscle
15	chr20:22256200-22257000	Enhancers	Dnd41	blood

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