Variant report

Variant	esv3323342
Chromosome Location	chr20:40625038-40629536
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:366)
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	chr20:40627142-40627502	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr20:40627126-40627511	K562	blood:	n/a	n/a
3	CEBPB	chr20:40627127-40627488	IMR90	lung:	n/a	n/a
4	CEBPB	chr20:40627170-40627384	K562	blood:	n/a	n/a
5	CEBPB	chr20:40627152-40627530	A549	lung:	n/a	n/a
6	CEBPB	chr20:40627131-40627520	MCF-7	breast:	n/a	n/a
7	CEBPB	chr20:40627145-40627545	MCF-7	breast:	n/a	n/a
8	CEBPB	chr20:40627135-40627507	HepG2	liver:	n/a	n/a
9	CEBPB	chr20:40627138-40627498	A549	lung:	n/a	n/a
10	CEBPB	chr20:40627152-40627483	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr20:40627010-40627120	Fibrobl	skin:	n/a	n/a
12	EBF1	chr20:40626208-40626456	GM12878	blood:	n/a	n/a
13	EBF1	chr20:40626246-40626495	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	chr20:40627538-40627559	Gliobla	brain:	n/a	n/a
17	POLR2A	chr20:40626963-40627130	MCF-7	breast:	n/a	n/a
18	POLR2A	chr20:40627516-40627525	Gliobla	brain:	n/a	n/a
19	POLR2A	chr20:40627088-40627149	K562	blood:	n/a	n/a
20	POLR2A	chr20:40627823-40627848	MCF-7	breast:	n/a	n/a
21	POLR2A	chr20:40626958-40627426	Gliobla	brain:	n/a	n/a
22	POLR2A	chr20:40627529-40627581	MCF-7	breast:	n/a	n/a
23	POLR2A	chr20:40627221-40627336	MCF-7	breast:	n/a	n/a
24	POLR2A	chr20:40627148-40627478	MCF-7	breast:	n/a	n/a
25	POLR2A	chr20:40627364-40627379	MCF-7	breast:	n/a	n/a
26	POLR2A	chr20:40627659-40627677	MCF-7	breast:	n/a	n/a
27	POLR2A	chr20:40627098-40627223	A549	lung:	n/a	n/a
28	POLR2A	chr20:40627002-40627068	GM12878	blood:	n/a	n/a
29	POLR2A	chr20:40627246-40627317	A549	lung:	n/a	n/a
30	POLR2A	chr20:40627572-40627575	Gliobla	brain:	n/a	n/a
31	POLR2A	chr20:40627667-40627691	Gliobla	brain:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:40626459-40626509	T-47D	breast:	n/a
2	chr20:40626459-40626509	SK-N-MC	brain:	n/a
3	chr20:40627977-40628027	CMK	blood:	n/a
4	chr20:40626459-40626509	ProgFib	skin:	n/a
5	chr20:40627194-40627244	NB4	blood:	n/a
6	chr20:40627665-40627715	GM12891	blood:	n/a
7	chr20:40627235-40627285	U87	brain:	n/a
8	chr20:40627977-40628027	AG04449	skin:	fetal
9	chr20:40628070-40628120	SK-N-SH_RA	brain:	n/a
10	chr20:40627977-40628027	NHDF-neo	bronchial:	n/a
11	chr20:40627194-40627244	LNCaP	prostate:	n/a
12	chr20:40626459-40626509	Hela-S3	cervix:	n/a
13	chr20:40627194-40627244	HRE	kidney:	n/a
14	chr20:40627665-40627715	SK-N-SH_RA	brain:	n/a
15	chr20:40628070-40628120	NHDF-neo	bronchial:	n/a
16	chr20:40627665-40627715	T-47D	breast:	n/a
17	chr20:40627665-40627715	HCPEpiC	choroid plexus:	n/a
18	chr20:40626459-40626509	U87	brain:	n/a
19	chr20:40627977-40628027	HNPCEpiC	eye:	n/a
20	chr20:40627977-40628027	HRCEpiC	kidney:	n/a
21	chr20:40627235-40627285	HUVEC	blood vessel:	n/a
22	chr20:40627977-40628027	HCT-116	colon:	n/a
23	chr20:40627977-40628027	U87	brain:	n/a
24	chr20:40627194-40627244	AG09319	gingival:	n/a
25	chr20:40627977-40628027	ECC-1	luminal epithelium:	n/a
26	chr20:40627235-40627285	NHDF-neo	bronchial:	n/a
27	chr20:40628070-40628120	HEEpiC	esophagus:	n/a
28	chr20:40626459-40626509	AG09309	skin:	n/a
29	chr20:40626459-40626509	Hepatocyte	liver:	n/a
30	chr20:40626459-40626509	HUVEC	blood vessel:	n/a
31	chr20:40626459-40626509	PANC-1	pancreas:	n/a
32	chr20:40627235-40627285	AoSMC	blood vessel:	n/a
33	chr20:40626459-40626509	GM12892	blood:	n/a
34	chr20:40627977-40628027	ProgFib	skin:	n/a
35	chr20:40627977-40628027	A549	lung:	n/a
36	chr20:40627977-40628027	HRE	kidney:	n/a
37	chr20:40627235-40627285	HRE	kidney:	n/a
38	chr20:40627235-40627285	AG09309	skin:	n/a
39	chr20:40627977-40628027	BJ	skin:	n/a
40	chr20:40627235-40627285	HRCEpiC	kidney:	n/a
41	chr20:40626459-40626509	MCF-7	breast:	n/a
42	chr20:40627977-40628027	SAEC	small airway:	n/a
43	chr20:40627194-40627244	BJ	skin:	n/a
44	chr20:40627194-40627244	NT2-D1	testis:	n/a
45	chr20:40627235-40627285	T-47D	breast:	n/a
46	chr20:40626459-40626509	HCF	heart:	n/a
47	chr20:40627665-40627715	K562	blood:	n/a
48	chr20:40627235-40627285	ECC-1	luminal epithelium:	n/a
49	chr20:40627977-40628027	HCM	heart:	n/a
50	chr20:40627235-40627285	SK-N-SH	brain:	n/a

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

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

No data

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

Extended variants
information (count: 203 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6065419	chr20:40625450-40625451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6065420	chr20:40625470-40625471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551984426	chr20:40625476-40625477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556999814	chr20:40625481-40625482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576762629	chr20:40625498-40625499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546223892	chr20:40625536-40625537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559973888	chr20:40625602-40625603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528712829	chr20:40625614-40625615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542031057	chr20:40625673-40625674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs118129262	chr20:40625702-40625703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185122759	chr20:40625706-40625707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191066621	chr20:40625765-40625766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146361635	chr20:40625815-40625816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375297570	chr20:40625817-40625818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560373367	chr20:40625821-40625822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140130753	chr20:40625881-40625882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547030793	chr20:40625935-40625936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75247831	chr20:40625938-40625939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568433766	chr20:40625953-40625954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181819560	chr20:40625980-40625981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139730769	chr20:40626018-40626019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534881607	chr20:40626089-40626090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372189333	chr20:40626090-40626091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186853475	chr20:40626118-40626119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550013486	chr20:40626123-40626124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372800158	chr20:40626125-40626126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557014556	chr20:40626159-40626160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576792606	chr20:40626182-40626183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539402600	chr20:40626243-40626244	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377708030	chr20:40626249-40626250	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529405862	chr20:40626256-40626257	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113723964	chr20:40626263-40626264	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370183646	chr20:40626291-40626292	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542069759	chr20:40626308-40626309	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561953562	chr20:40626312-40626313	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575426609	chr20:40626351-40626352	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs117750358	chr20:40626355-40626356	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564585185	chr20:40626357-40626358	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147711449	chr20:40626370-40626371	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372174569	chr20:40626375-40626376	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142458476	chr20:40626444-40626445	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114026761	chr20:40626459-40626460	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6130000	chr20:40626474-40626475	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs191737546	chr20:40626508-40626509	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111559788	chr20:40626513-40626514	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550437056	chr20:40626526-40626527	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570541765	chr20:40626534-40626535	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183128578	chr20:40626542-40626543	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12480781	chr20:40626576-40626577	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6072586	chr20:40626595-40626596	Active TSS 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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