Variant report

Variant	nsv1061504
Chromosome Location	chr20:14518364-14565721
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	chr20:14519061-14519462	GM12878	blood:	n/a	n/a
9	BRCA1	chr20:14564058-14564490	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr20:14534754-14535183	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr20:14563541-14564481	Hela-S3	cervix:	n/a	chr20:14563664-14563675
12	CEBPB	chr20:14545235-14545411	A549	lung:	n/a	chr20:14545291-14545302
13	CEBPB	chr20:14563511-14563863	A549	lung:	n/a	chr20:14563664-14563675
14	CEBPB	chr20:14537822-14538100	A549	lung:	n/a	n/a
15	CEBPB	chr20:14561304-14561684	A549	lung:	n/a	chr20:14561519-14561532
16	CEBPB	chr20:14563500-14563833	IMR90	lung:	n/a	chr20:14563664-14563675
17	CEBPB	chr20:14561314-14561686	MCF-7	breast:	n/a	chr20:14561519-14561532
18	CEBPB	chr20:14563488-14563850	HepG2	liver:	n/a	chr20:14563664-14563675
19	CEBPB	chr20:14534453-14535190	Hela-S3	cervix:	n/a	chr20:14534526-14534539
20	CEBPB	chr20:14543092-14543328	HepG2	liver:	n/a	n/a
21	CEBPB	chr20:14561254-14561773	A549	lung:	n/a	chr20:14561519-14561532
22	CEBPB	chr20:14537775-14538133	HepG2	liver:	n/a	n/a
23	CEBPB	chr20:14545219-14545478	HepG2	liver:	n/a	chr20:14545291-14545302
24	CEBPB	chr20:14537787-14538125	IMR90	lung:	n/a	n/a
25	CEBPB	chr20:14537823-14538045	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr20:14537881-14538046	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr20:14519099-14519406	GM12878	blood:	n/a	n/a
28	CTCF	chr20:14523740-14523890	BE2_C	brain:	n/a	n/a
29	CTCF	chr20:14542600-14542750	NHDF-neo	bronchial:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
30	CTCF	chr20:14542620-14542770	HVMF	connective:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
31	CTCF	chr20:14542620-14542770	HCPEpiC	choroid plexus:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
32	CTCF	chr20:14542645-14542789	LNCaP	prostate:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
33	CTCF	chr20:14523780-14523930	BE2_C	brain:	n/a	n/a
34	CTCF	chr20:14542660-14542810	AG04450	lung:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
35	CTCF	chr20:14542640-14542790	AoAF	blood vessel:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
36	CTCF	chr20:14542640-14542790	AG10803	skin:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
37	CTCF	chr20:14542660-14542810	HPF	lung:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
38	CTCF	chr20:14542660-14542810	AG09319	gingival:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
39	CTCF	chr20:14542539-14542885	IMR90	lung:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
40	CTCF	chr20:14542640-14542790	HMF	breast:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
41	CTCF	chr20:14542660-14542810	HBMEC	blood vessel:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
42	CTCF	chr20:14542680-14542830	HPF	lung:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
43	CTCF	chr20:14542760-14542910	NHLF	lung:	n/a	n/a
44	CTCF	chr20:14542680-14542830	MCF-7	breast:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
45	CTCF	chr20:14542640-14542790	AG04450	lung:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
46	CTCF	chr20:14542680-14542830	NHDF-neo	bronchial:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
47	CTCF	chr20:14518840-14518990	GM12875	blood:	n/a	n/a
48	CTCF	chr20:14542640-14542790	AG04449	skin:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
49	CTCF	chr20:14542620-14542770	AG04449	skin:	n/a	chr20:14542703-14542713 chr20:14542695-14542716
50	CTCF	chr20:14542680-14542830	HVMF	connective:	n/a	chr20:14542703-14542713 chr20:14542695-14542716

No.	Distal block	Cell Line	Cell type
1	chr19:30441690..30442493-chr20:14547650..14548282,2	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:

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

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

Extended variants
information (count: 1662 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1662 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6135172	chr20:14518364-14518365	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73256973	chr20:14518391-14518392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558470597	chr20:14518418-14518419	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs143906093	chr20:14518424-14518425	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs115077341	chr20:14518447-14518448	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs556219675	chr20:14518465-14518466	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs555511775	chr20:14518474-14518475	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs574859455	chr20:14518500-14518501	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs59286602	chr20:14518540-14518541	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs367951707	chr20:14518549-14518550	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs554083346	chr20:14518550-14518551	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs572656018	chr20:14518571-14518572	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs546519412	chr20:14518608-14518609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549793589	chr20:14518678-14518679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574853584	chr20:14518718-14518719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147196764	chr20:14518758-14518759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140476124	chr20:14518807-14518808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554238073	chr20:14518839-14518840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544246078	chr20:14518908-14518909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73901272	chr20:14518966-14518967	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs78865862	chr20:14519052-14519053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142898749	chr20:14519118-14519119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150787987	chr20:14519171-14519172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139195635	chr20:14519178-14519179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577306530	chr20:14519236-14519237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552037546	chr20:14519254-14519255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78473077	chr20:14519265-14519266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149891326	chr20:14519269-14519270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556154683	chr20:14519285-14519286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188268231	chr20:14519321-14519322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535583017	chr20:14519340-14519341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143859846	chr20:14519380-14519381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191505311	chr20:14519436-14519437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs79068693	chr20:14519490-14519491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558459655	chr20:14519497-14519498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1015581	chr20:14519512-14519513	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs143230058	chr20:14519518-14519519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116023856	chr20:14519540-14519541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574421470	chr20:14519575-14519576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543523536	chr20:14519578-14519579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541550573	chr20:14519661-14519662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112877248	chr20:14519662-14519663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114381754	chr20:14519689-14519690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73612367	chr20:14519777-14519778	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs564006413	chr20:14519790-14519791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369346447	chr20:14519823-14519824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531513528	chr20:14519862-14519863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374097422	chr20:14519877-14519878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549720282	chr20:14519895-14519896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116865069	chr20:14519989-14519990	Enhancers Weak transcription	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:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14517200-14518600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:14517200-14518600	Enhancers	NHEK	skin
3	chr20:14517200-14519200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr20:14517400-14519000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr20:14517800-14519000	Enhancers	HMEC	breast
6	chr20:14518400-14518600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr20:14518400-14518600	Bivalent Enhancer	GM12878-XiMat	blood
8	chr20:14518600-14519000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr20:14518600-14519800	Enhancers	GM12878-XiMat	blood
10	chr20:14518600-14520200	Enhancers	Primary hematopoietic stem cells	blood
11	chr20:14518800-14519800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr20:14519000-14519200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr20:14519200-14523800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr20:14519600-14520200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr20:14519800-14520000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr20:14519800-14520200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr20:14520200-14521200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr20:14521200-14521400	Enhancers	Primary hematopoietic stem cells	blood
19	chr20:14522800-14523000	Enhancers	Gastric	stomach
20	chr20:14523000-14529600	Weak transcription	Gastric	stomach
21	chr20:14523800-14524000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr20:14524400-14526400	Enhancers	Fetal Heart	heart
23	chr20:14529600-14529800	ZNF genes & repeats	Gastric	stomach
24	chr20:14533200-14533400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr20:14533400-14534800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr20:14534200-14535400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr20:14534200-14535400	Enhancers	HSMM	muscle
28	chr20:14534200-14535400	Enhancers	HSMMtube	muscle
29	chr20:14534200-14535600	Enhancers	Hela-S3	cervix
30	chr20:14534400-14537600	Enhancers	NHEK	skin
31	chr20:14534600-14534800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr20:14534600-14535200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr20:14534600-14535400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr20:14534600-14535400	Enhancers	Placenta Amnion	Placenta Amnion
35	chr20:14534600-14537400	Enhancers	HMEC	breast
36	chr20:14534800-14535200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr20:14534800-14535200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr20:14534800-14537400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr20:14535000-14537400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr20:14535200-14535400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr20:14535200-14536200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr20:14535400-14540400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr20:14535400-14540400	Weak transcription	HSMM	muscle
44	chr20:14535400-14542000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr20:14535400-14548800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr20:14535600-14536000	Weak transcription	Hela-S3	cervix
47	chr20:14535800-14537200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr20:14536000-14536400	Enhancers	Hela-S3	cervix
49	chr20:14536200-14536400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr20:14536200-14537000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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