Variant report

Variant	nsv585442
Chromosome Location	chr20:14420556-14485947
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	chr20:14433593-14433608	K562	blood:	n/a	n/a
2	BATF	chr20:14470918-14471200	GM12878	blood:	n/a	chr20:14471085-14471095 chr20:14471084-14471095
3	BRCA1	chr20:14462597-14462814	Hela-S3	cervix:	n/a	n/a
4	BRCA1	chr20:14477554-14478434	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr20:14421855-14422247	IMR90	lung:	n/a	chr20:14422047-14422058
6	CEBPB	chr20:14424786-14425069	IMR90	lung:	n/a	chr20:14424934-14424945
7	CEBPB	chr20:14430046-14430292	HepG2	liver:	n/a	chr20:14430150-14430161
8	CEBPB	chr20:14462595-14462930	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr20:14430047-14430271	Hela-S3	cervix:	n/a	chr20:14430150-14430161
10	CEBPB	chr20:14451786-14451962	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr20:14429979-14430347	IMR90	lung:	n/a	chr20:14430150-14430161
12	CEBPB	chr20:14421873-14422215	HepG2	liver:	n/a	chr20:14422047-14422058
13	CEBPB	chr20:14421894-14422203	A549	lung:	n/a	chr20:14422047-14422058
14	CEBPB	chr20:14424834-14425062	Hela-S3	cervix:	n/a	chr20:14424934-14424945
15	CEBPB	chr20:14460493-14460767	IMR90	lung:	n/a	chr20:14460578-14460589
16	CEBPB	chr20:14460495-14460749	HepG2	liver:	n/a	chr20:14460578-14460589
17	CEBPB	chr20:14425937-14426328	IMR90	lung:	n/a	n/a
18	CEBPB	chr20:14424769-14425107	HepG2	liver:	n/a	chr20:14424934-14424945
19	CEBPB	chr20:14424801-14425080	A549	lung:	n/a	chr20:14424934-14424945
20	CEBPB	chr20:14457876-14458179	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr20:14477615-14478628	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr20:14457842-14458199	IMR90	lung:	n/a	n/a
23	CEBPB	chr20:14468833-14469298	Hela-S3	cervix:	n/a	chr20:14469139-14469152 chr20:14469139-14469150 chr20:14469078-14469089 chr20:14469139-14469150 chr20:14469075-14469092 chr20:14469078-14469091
24	CEBPB	chr20:14462739-14462794	A549	lung:	n/a	n/a
25	CEBPB	chr20:14468982-14469255	A549	lung:	n/a	chr20:14469139-14469152 chr20:14469139-14469150 chr20:14469078-14469089 chr20:14469139-14469150 chr20:14469075-14469092 chr20:14469078-14469091
26	CEBPB	chr20:14456905-14457062	HepG2	liver:	n/a	chr20:14456912-14456923
27	CEBPB	chr20:14430041-14430324	A549	lung:	n/a	chr20:14430150-14430161
28	CEBPB	chr20:14471046-14471218	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr20:14478810-14478945	HepG2	liver:	n/a	n/a
30	CEBPB	chr20:14429993-14430289	A549	lung:	n/a	chr20:14430150-14430161
31	CEBPB	chr20:14468942-14469246	HepG2	liver:	n/a	chr20:14469139-14469152 chr20:14469139-14469150 chr20:14469078-14469089 chr20:14469139-14469150 chr20:14469075-14469092 chr20:14469078-14469091
32	CEBPB	chr20:14462450-14462948	IMR90	lung:	n/a	n/a
33	CTCF	chr20:14428300-14428450	HAc	cerebellar:	n/a	n/a
34	CTCF	chr20:14479340-14479490	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr20:14479475-14479508	Fibrobl	skin:	n/a	n/a
36	CTCF	chr20:14459820-14459970	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr20:14459765-14459845	NHEK	skin:	n/a	n/a
38	CTCF	chr20:14459660-14459810	GM12872	blood:	n/a	n/a
39	CTCF	chr20:14459500-14459650	GM06990	blood:	n/a	n/a
40	CTCF	chr20:14479480-14479630	BE2_C	brain:	n/a	n/a
41	CTCF	chr20:14459760-14459910	NHEK	skin:	n/a	n/a
42	CTCF	chr20:14479440-14479590	BE2_C	brain:	n/a	n/a
43	CTCF	chr20:14482380-14482530	HepG2	liver:	n/a	n/a
44	E2F4	chr20:14421588-14422061	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr20:14426686-14426883	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr20:14426005-14426180	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr20:14462632-14462797	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr20:14457663-14458174	MCF10A-Er-Src	breast:	n/a	chr20:14457736-14457748
49	E2F4	chr20:14430076-14430341	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr20:14468128-14468466	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:14419711..14421377-chr20:14423386..14425403,2	MCF-7	breast:
2	chr20:14469605..14471318-chr20:14479870..14481906,2	MCF-7	breast:
3	chr20:14469605..14471318-chr20:14479870..14481906,2	MCF-7	breast:
4	chr20:14419711..14421377-chr20:14423386..14425403,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C20orf7-3	chr20:14474125-14474154	NONHSAT078714

Variant related genes	Relation type
MACROD2	TF binding region

Extended variants
information (count: 2160 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:2160 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6074737	chr20:14420556-14420557	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532935442	chr20:14420560-14420561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556328547	chr20:14420617-14420618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571793119	chr20:14420649-14420650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6042732	chr20:14420652-14420653	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs541880158	chr20:14420665-14420666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188018989	chr20:14420667-14420668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147944784	chr20:14420688-14420689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371958814	chr20:14420744-14420745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548498542	chr20:14420752-14420753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34228838	chr20:14420777-14420778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181955111	chr20:14420816-14420817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186386761	chr20:14420885-14420886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557407388	chr20:14420892-14420893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111950237	chr20:14420896-14420897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111413840	chr20:14421009-14421010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367997409	chr20:14421017-14421018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6033962	chr20:14421052-14421053	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs191921040	chr20:14421053-14421054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34548925	chr20:14421115-14421116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541681396	chr20:14421137-14421138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183831143	chr20:14421177-14421178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6033963	chr20:14421214-14421215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs80168499	chr20:14421257-14421258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564191214	chr20:14421269-14421270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532997340	chr20:14421272-14421273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546613403	chr20:14421304-14421305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35014878	chr20:14421324-14421325	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs368734518	chr20:14421347-14421348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140451877	chr20:14421362-14421363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs915074	chr20:14421379-14421380	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs568591039	chr20:14421393-14421394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531119720	chr20:14421399-14421400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2876378	chr20:14421445-14421446	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs149994269	chr20:14421451-14421452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145192862	chr20:14421454-14421455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549552728	chr20:14421467-14421468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563111642	chr20:14421525-14421526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186757191	chr20:14421576-14421577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149172433	chr20:14421612-14421613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535406355	chr20:14421646-14421647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557184785	chr20:14421648-14421649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547167454	chr20:14421687-14421688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377176215	chr20:14421693-14421694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73901255	chr20:14421736-14421737	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs8120663	chr20:14421778-14421779	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs8113955	chr20:14421787-14421788	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs577812767	chr20:14421801-14421802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374287297	chr20:14421815-14421816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111395103	chr20:14421844-14421845	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
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
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
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14419800-14421400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:14420400-14421600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr20:14420600-14420800	Enhancers	HMEC	breast
4	chr20:14420600-14421000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr20:14420800-14421400	Weak transcription	HMEC	breast
6	chr20:14421000-14421400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr20:14421400-14422200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr20:14421400-14422400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr20:14421400-14422400	Enhancers	HMEC	breast
10	chr20:14421800-14422200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr20:14421800-14422200	Enhancers	NHDF-Ad	bronchial
12	chr20:14422000-14422200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr20:14422000-14422400	Enhancers	HUVEC	blood vessel
14	chr20:14422200-14424400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr20:14422200-14425600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr20:14422200-14425800	Weak transcription	NHDF-Ad	bronchial
17	chr20:14422200-14426400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr20:14422400-14425400	Weak transcription	HUVEC	blood vessel
19	chr20:14422400-14426000	Weak transcription	HMEC	breast
20	chr20:14422400-14429800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr20:14424400-14425200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr20:14424400-14428200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr20:14424800-14425200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr20:14425200-14426200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr20:14425400-14427000	Enhancers	HUVEC	blood vessel
26	chr20:14425600-14427200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr20:14425800-14426400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr20:14425800-14427200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr20:14425800-14427400	Enhancers	NHDF-Ad	bronchial
30	chr20:14425800-14427600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr20:14426000-14426800	Enhancers	HMEC	breast
32	chr20:14426200-14426600	Enhancers	A549	lung
33	chr20:14426200-14426600	Enhancers	NHEK	skin
34	chr20:14426200-14426800	Enhancers	Hela-S3	cervix
35	chr20:14426200-14427400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr20:14426400-14426800	Enhancers	NHLF	lung
37	chr20:14426400-14427200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr20:14426400-14430000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr20:14426600-14429800	Weak transcription	A549	lung
40	chr20:14426600-14429800	Weak transcription	NHEK	skin
41	chr20:14426800-14427200	Weak transcription	Hela-S3	cervix
42	chr20:14426800-14429800	Weak transcription	NHLF	lung
43	chr20:14426800-14430400	Weak transcription	HMEC	breast
44	chr20:14427000-14427400	Enhancers	H9 Cell Line	embryonic stem cell
45	chr20:14427000-14427400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr20:14427000-14427400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr20:14427000-14427600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr20:14427000-14429800	Weak transcription	HUVEC	blood vessel
49	chr20:14427200-14427400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr20:14427200-14427400	Enhancers	Hela-S3	cervix

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