Variant report

Variant	nsv1060291
Chromosome Location	chr20:14498526-14578899
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	ATF2	chr20:14519085-14519448	GM12878	blood:	n/a	n/a
2	BACH1	chr20:14548845-14549180	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr20:14549483-14549672	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr20:14519115-14519423	GM12878	blood:	n/a	n/a
5	BCL11A	chr20:14519112-14519442	GM12878	blood:	n/a	n/a
6	BCL11A	chr20:14519106-14519411	GM12878	blood:	n/a	n/a
7	BHLHE40	chr20:14560713-14560743	A549	lung:	n/a	n/a
8	BHLHE40	chr20:14516100-14516128	GM12878	blood:	n/a	n/a
9	BHLHE40	chr20:14519061-14519462	GM12878	blood:	n/a	n/a
10	BRCA1	chr20:14534754-14535183	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr20:14564058-14564490	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr20:14534453-14535190	Hela-S3	cervix:	n/a	chr20:14534526-14534539
13	CEBPB	chr20:14563541-14564481	Hela-S3	cervix:	n/a	chr20:14563664-14563675
14	CEBPB	chr20:14537787-14538125	IMR90	lung:	n/a	n/a
15	CEBPB	chr20:14543092-14543328	HepG2	liver:	n/a	n/a
16	CEBPB	chr20:14563511-14563863	A549	lung:	n/a	chr20:14563664-14563675
17	CEBPB	chr20:14537822-14538100	A549	lung:	n/a	n/a
18	CEBPB	chr20:14563500-14563833	IMR90	lung:	n/a	chr20:14563664-14563675
19	CEBPB	chr20:14537775-14538133	HepG2	liver:	n/a	n/a
20	CEBPB	chr20:14561314-14561686	MCF-7	breast:	n/a	chr20:14561519-14561532
21	CEBPB	chr20:14537881-14538046	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr20:14561304-14561684	A549	lung:	n/a	chr20:14561519-14561532
23	CEBPB	chr20:14561254-14561773	A549	lung:	n/a	chr20:14561519-14561532
24	CEBPB	chr20:14545219-14545478	HepG2	liver:	n/a	chr20:14545291-14545302
25	CEBPB	chr20:14563488-14563850	HepG2	liver:	n/a	chr20:14563664-14563675
26	CEBPB	chr20:14537823-14538045	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr20:14545235-14545411	A549	lung:	n/a	chr20:14545291-14545302
28	CHD2	chr20:14509586-14509607	HepG2	liver:	n/a	n/a
29	CHD2	chr20:14519099-14519406	GM12878	blood:	n/a	n/a
30	CTCF	chr20:14542660-14542810	HBMEC	blood vessel:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
31	CTCF	chr20:14542660-14542810	AG09319	gingival:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
32	CTCF	chr20:14542640-14542790	HMF	breast:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
33	CTCF	chr20:14542680-14542830	NHDF-neo	bronchial:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
34	CTCF	chr20:14542660-14542810	HPAF	blood vessel:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
35	CTCF	chr20:14503780-14503930	HEEpiC	esophagus:	n/a	n/a
36	CTCF	chr20:14542760-14542910	NHLF	lung:	n/a	n/a
37	CTCF	chr20:14542640-14542790	AG04450	lung:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
38	CTCF	chr20:14542632-14542800	LNCaP	prostate:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
39	CTCF	chr20:14542680-14542830	HVMF	connective:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
40	CTCF	chr20:14542680-14542830	HPF	lung:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
41	CTCF	chr20:14503812-14503933	Fibrobl	skin:	n/a	n/a
42	CTCF	chr20:14523780-14523930	BE2_C	brain:	n/a	n/a
43	CTCF	chr20:14542660-14542810	HPF	lung:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
44	CTCF	chr20:14542620-14542770	AG04449	skin:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
45	CTCF	chr20:14542680-14542830	MCF-7	breast:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
46	CTCF	chr20:14542640-14542790	AoAF	blood vessel:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
47	CTCF	chr20:14542681-14542758	HUVEC	blood vessel:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
48	CTCF	chr20:14518840-14518990	GM12875	blood:	n/a	n/a
49	CTCF	chr20:14503791-14504009	NHEK	skin:	n/a	n/a
50	CTCF	chr20:14542660-14542810	AG04450	lung:	n/a	chr20:14542703-14542713 chr20:14542695-14542716

No.	Distal block	Cell Line	Cell type
1	chr20:14512165..14513979-chr20:14521499..14523425,2	MCF-7	breast:
2	chr20:14527106..14529484-chr20:14530662..14532376,3	MCF-7	breast:
3	chr20:14512165..14513979-chr20:14521499..14523425,2	MCF-7	breast:
4	chr20:12959607..12961682-chr20:14555879..14557670,2	K562	blood:
5	chr19:30441690..30442493-chr20:14547650..14548282,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C20orf7-1	chr20:14535030-14535074	ENSG00000227927.1
2	lnc-C20orf7-3	chr20:14504044-14504100	NONHSAT078716
3	lnc-FLRT3-3	chr20:14527830-14528269	NONHSAT078717

Variant related genes	Relation type
MACROD2	TF binding region
ENSG00000227563	TF binding region
MACROD2-IT1	TF binding region
ENSG00000227563	chromatin interactions

Extended variants
information (count: 2907 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:2907 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560558065	chr20:14498526-14498527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527746811	chr20:14498619-14498620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552255767	chr20:14498656-14498657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541290284	chr20:14498703-14498704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564287067	chr20:14498705-14498706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188231394	chr20:14498706-14498707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs423060	chr20:14498717-14498718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs568635889	chr20:14498728-14498729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529611493	chr20:14498765-14498766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs57036728	chr20:14498774-14498775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547840758	chr20:14498776-14498777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34028063	chr20:14498777-14498778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73096677	chr20:14498859-14498860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs116756584	chr20:14498879-14498880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10717138	chr20:14498899-14498900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs397816075	chr20:14498904-14498905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533827579	chr20:14498919-14498920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149645918	chr20:14498927-14498928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570603581	chr20:14498937-14498938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73096678	chr20:14498989-14498990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556353563	chr20:14499005-14499006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs118018076	chr20:14499014-14499015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539013014	chr20:14499070-14499071	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs35658161	chr20:14499130-14499131	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs553710293	chr20:14499221-14499222	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs117748239	chr20:14499259-14499260	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs545832489	chr20:14499263-14499264	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs564223808	chr20:14499317-14499318	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs369159272	chr20:14499354-14499355	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs192959740	chr20:14499367-14499368	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs184896627	chr20:14499388-14499389	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs372975319	chr20:14499408-14499409	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs562321489	chr20:14499421-14499422	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs529518198	chr20:14499453-14499454	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs548069496	chr20:14499477-14499478	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs566425950	chr20:14499482-14499483	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs527271996	chr20:14499586-14499587	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs377191000	chr20:14499633-14499634	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs374433787	chr20:14499680-14499681	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs33967173	chr20:14499684-14499685	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs144365108	chr20:14499719-14499720	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs552188761	chr20:14499729-14499730	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs148795136	chr20:14499774-14499775	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs539987280	chr20:14499860-14499861	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs142298432	chr20:14499929-14499930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535336516	chr20:14499953-14499954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs151242521	chr20:14499957-14499958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73901266	chr20:14499983-14499984	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs556674942	chr20:14499999-14500000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188494179	chr20:14500011-14500012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Esophageal adenocarcinoma	18519675	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20531469	CNVD

Chromatin state (count:242 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14489000-14499400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:14494000-14499000	Weak transcription	Fetal Heart	heart
3	chr20:14499000-14499200	Enhancers	Fetal Heart	heart
4	chr20:14499200-14499600	Flanking Active TSS	Fetal Heart	heart
5	chr20:14499200-14500000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr20:14499200-14500200	Enhancers	NHEK	skin
7	chr20:14499400-14500000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr20:14499400-14500000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr20:14499400-14500200	Enhancers	HMEC	breast
10	chr20:14499600-14500000	Enhancers	Fetal Heart	heart
11	chr20:14500000-14501200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr20:14500000-14501400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr20:14500000-14501400	Weak transcription	Fetal Heart	heart
14	chr20:14500000-14501600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr20:14500200-14501400	Weak transcription	HMEC	breast
16	chr20:14500200-14501400	Weak transcription	NHEK	skin
17	chr20:14501200-14502800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr20:14501200-14504600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr20:14501400-14502000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr20:14501400-14502200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr20:14501400-14502600	Enhancers	Fetal Heart	heart
22	chr20:14501400-14502600	Enhancers	NHEK	skin
23	chr20:14501400-14502800	Enhancers	Primary hematopoietic stem cells	blood
24	chr20:14501400-14502800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr20:14501400-14503600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr20:14501400-14504800	Enhancers	HMEC	breast
27	chr20:14501600-14504800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr20:14501800-14502200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr20:14502600-14502800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr20:14502600-14503600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr20:14502600-14503800	Flanking Active TSS	NHEK	skin
32	chr20:14502600-14504000	Enhancers	Esophagus	oesophagus
33	chr20:14503600-14503800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr20:14503800-14504000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr20:14503800-14504000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr20:14503800-14504600	Enhancers	NHEK	skin
37	chr20:14504000-14504200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr20:14504000-14504200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr20:14504200-14504800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr20:14504200-14510600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr20:14504600-14517200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr20:14505200-14505600	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr20:14507200-14507600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr20:14507800-14508000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr20:14510600-14511000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr20:14510600-14511000	Enhancers	Fetal Heart	heart
47	chr20:14511000-14515200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr20:14517000-14517400	Enhancers	HMEC	breast
49	chr20:14517200-14518000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr20:14517200-14518200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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