Variant report

Variant	esv3329223
Chromosome Location	chr20:40626188-40628686
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:367)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr20:40627135-40627507	HepG2	liver:	n/a	n/a
2	CEBPB	chr20:40627170-40627384	K562	blood:	n/a	n/a
3	CEBPB	chr20:40627152-40627483	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr20:40627131-40627520	MCF-7	breast:	n/a	n/a
5	CEBPB	chr20:40627126-40627511	K562	blood:	n/a	n/a
6	CEBPB	chr20:40627152-40627530	A549	lung:	n/a	n/a
7	CEBPB	chr20:40627145-40627545	MCF-7	breast:	n/a	n/a
8	CEBPB	chr20:40627138-40627498	A549	lung:	n/a	n/a
9	CEBPB	chr20:40627127-40627488	IMR90	lung:	n/a	n/a
10	CEBPB	chr20:40627142-40627502	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr20:40627010-40627120	Fibrobl	skin:	n/a	n/a
12	EBF1	chr20:40626246-40626495	GM12878	blood:	n/a	n/a
13	EBF1	chr20:40626208-40626456	GM12878	blood:	n/a	n/a
14	MYC	chr20:40627314-40627323	MCF-7	breast:	n/a	n/a
15	MYC	chr20:40627341-40627369	MCF-7	breast:	n/a	n/a
16	POLR2A	chr20:40626958-40627426	Gliobla	brain:	n/a	n/a
17	POLR2A	chr20:40626963-40627130	MCF-7	breast:	n/a	n/a
18	POLR2A	chr20:40627246-40627317	A549	lung:	n/a	n/a
19	POLR2A	chr20:40627823-40627848	MCF-7	breast:	n/a	n/a
20	POLR2A	chr20:40627516-40627525	Gliobla	brain:	n/a	n/a
21	POLR2A	chr20:40627538-40627559	Gliobla	brain:	n/a	n/a
22	POLR2A	chr20:40627667-40627691	Gliobla	brain:	n/a	n/a
23	POLR2A	chr20:40627364-40627379	MCF-7	breast:	n/a	n/a
24	POLR2A	chr20:40627098-40627223	A549	lung:	n/a	n/a
25	POLR2A	chr20:40627572-40627575	Gliobla	brain:	n/a	n/a
26	POLR2A	chr20:40627002-40627068	GM12878	blood:	n/a	n/a
27	POLR2A	chr20:40627088-40627149	K562	blood:	n/a	n/a
28	POLR2A	chr20:40627221-40627336	MCF-7	breast:	n/a	n/a
29	POLR2A	chr20:40627659-40627677	MCF-7	breast:	n/a	n/a
30	POLR2A	chr20:40627148-40627478	MCF-7	breast:	n/a	n/a
31	POLR2A	chr20:40627529-40627581	MCF-7	breast:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:40628070-40628120	NHBE	bronchial:	n/a
2	chr20:40628070-40628120	NHBE	bronchial:	n/a
3	chr20:40627235-40627285	HUVEC	blood vessel:	n/a
4	chr20:40627194-40627244	IMR90	lung:	fetal
5	chr20:40627977-40628027	CMK	blood:	n/a
6	chr20:40627665-40627715	Caco-2	colon:	n/a
7	chr20:40627194-40627244	NHDF-neo	bronchial:	n/a
8	chr20:40627665-40627715	SK-N-SH	brain:	n/a
9	chr20:40626459-40626509	Caco-2	colon:	n/a
10	chr20:40627235-40627285	AG09319	gingival:	n/a
11	chr20:40626459-40626509	NB4	blood:	n/a
12	chr20:40627235-40627285	NH-A	brain:	n/a
13	chr20:40628070-40628120	GM12891	blood:	n/a
14	chr20:40627194-40627244	Hela-S3	cervix:	n/a
15	chr20:40626459-40626509	Hela-S3	cervix:	n/a
16	chr20:40626459-40626509	HCM	heart:	n/a
17	chr20:40627194-40627244	HMEC	breast:	n/a
18	chr20:40626459-40626509	SK-N-SH	brain:	n/a
19	chr20:40627235-40627285	NB4	blood:	n/a
20	chr20:40627977-40628027	A549	lung:	n/a
21	chr20:40626459-40626509	HepG2	liver:	n/a
22	chr20:40627194-40627244	AG09319	gingival:	n/a
23	chr20:40627977-40628027	HEK293	kidney:	embryo
24	chr20:40627665-40627715	MCF-7	breast:	n/a
25	chr20:40628070-40628120	HCT-116	colon:	n/a
26	chr20:40627977-40628027	SKMC	muscle:	n/a
27	chr20:40628070-40628120	HCF	heart:	n/a
28	chr20:40627665-40627715	NHDF-neo	bronchial:	n/a
29	chr20:40627235-40627285	HAEpiC	amniotic membrane:	n/a
30	chr20:40626459-40626509	BE2_C	brain:	n/a
31	chr20:40626459-40626509	GM12891	blood:	n/a
32	chr20:40626459-40626509	Jurkat	blood:	n/a
33	chr20:40628070-40628120	HCM	heart:	n/a
34	chr20:40627194-40627244	PANC-1	pancreas:	n/a
35	chr20:40627235-40627285	GM12878	blood:	n/a
36	chr20:40627235-40627285	HRCEpiC	kidney:	n/a
37	chr20:40626459-40626509	AoSMC	blood vessel:	n/a
38	chr20:40627977-40628027	BE2_C	brain:	n/a
39	chr20:40627977-40628027	Caco-2	colon:	n/a
40	chr20:40627665-40627715	NT2-D1	testis:	n/a
41	chr20:40627235-40627285	Hela-S3	cervix:	n/a
42	chr20:40627977-40628027	SK-N-MC	brain:	n/a
43	chr20:40628070-40628120	NB4	blood:	n/a
44	chr20:40627977-40628027	Jurkat	blood:	n/a
45	chr20:40627977-40628027	HNPCEpiC	eye:	n/a
46	chr20:40628070-40628120	LNCaP	prostate:	n/a
47	chr20:40627665-40627715	AoSMC	blood vessel:	n/a
48	chr20:40627665-40627715	H1-hESC	embryonic stem cell:	embryo
49	chr20:40627665-40627715	BJ	skin:	n/a
50	chr20:40627977-40628027	HEEpiC	esophagus:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:40625261..40628055-chr20:40628538..40631191,2	MCF-7	breast:
2	chr20:40621776..40623735-chr20:40625539..40627420,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223651	TF binding region
ENSG00000223651	CpG island
ENSG00000223651	chromatin interactions

Extended variants
information (count: 141 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539402600	chr20:40626243-40626244	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377708030	chr20:40626249-40626250	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529405862	chr20:40626256-40626257	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113723964	chr20:40626263-40626264	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370183646	chr20:40626291-40626292	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542069759	chr20:40626308-40626309	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561953562	chr20:40626312-40626313	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575426609	chr20:40626351-40626352	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117750358	chr20:40626355-40626356	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564585185	chr20:40626357-40626358	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147711449	chr20:40626370-40626371	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372174569	chr20:40626375-40626376	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142458476	chr20:40626444-40626445	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114026761	chr20:40626459-40626460	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6130000	chr20:40626474-40626475	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs191737546	chr20:40626508-40626509	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111559788	chr20:40626513-40626514	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550437056	chr20:40626526-40626527	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570541765	chr20:40626534-40626535	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183128578	chr20:40626542-40626543	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12480781	chr20:40626576-40626577	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6072586	chr20:40626595-40626596	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540021938	chr20:40626636-40626637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372571638	chr20:40626642-40626643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558197722	chr20:40626645-40626646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201151859	chr20:40626678-40626679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555639412	chr20:40626686-40626687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575461827	chr20:40626719-40626720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528930565	chr20:40626733-40626734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544779580	chr20:40626779-40626780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564490504	chr20:40626800-40626801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148926593	chr20:40626801-40626802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115903687	chr20:40626811-40626812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112374536	chr20:40626832-40626833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560547343	chr20:40626850-40626851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529296492	chr20:40626860-40626861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189889901	chr20:40626870-40626871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6130001	chr20:40626946-40626947	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs530790137	chr20:40626947-40626948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143210148	chr20:40626959-40626960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377372155	chr20:40626973-40626974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567224520	chr20:40626980-40626981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539527899	chr20:40626987-40626988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115247421	chr20:40626991-40626992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535063332	chr20:40626999-40627000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555677969	chr20:40627000-40627001	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554964992	chr20:40627030-40627031	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569228218	chr20:40627037-40627038	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200311832	chr20:40627039-40627040	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558333918	chr20:40627058-40627059	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	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
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Soft tissue tumor	16732325	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	19193619	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelodysplastic syndrome	17634407	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ductal carcinoma	22052326	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	22539939	CNVD
Myelofibrosis	22110671	CNVD
Cervical cancer	16585170	CNVD
Ovarian neoplasms	16753589	CNVD
Infertility	21528002	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40625400-40631800	Weak transcription	Right Atrium	heart
2	chr20:40626200-40626600	Active TSS	Brain Substantia Nigra	brain
3	chr20:40627000-40627800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr20:40627000-40628000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr20:40627400-40627800	ZNF genes & repeats	Spleen	Spleen

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