Variant report

Variant	nsv912692
Chromosome Location	chr20:14538864-14650357
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	ARID3A	chr20:14590214-14590575	HepG2	liver:	n/a	n/a
2	ATF3	chr20:14603385-14603865	A549	lung:	n/a	n/a
3	ATF3	chr20:14613673-14613899	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr20:14613539-14613866	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr20:14549483-14549672	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr20:14548845-14549180	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr20:14560713-14560743	A549	lung:	n/a	n/a
8	BRCA1	chr20:14605458-14605460	H1-hESC	embryonic stem cell:	n/a	n/a
9	BRCA1	chr20:14564058-14564490	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr20:14590237-14590495	HepG2	liver:	n/a	n/a
11	CEBPB	chr20:14613598-14613963	HepG2	liver:	n/a	chr20:14613780-14613791
12	CEBPB	chr20:14593051-14593423	HepG2	liver:	n/a	chr20:14593214-14593225
13	CEBPB	chr20:14593076-14593365	ECC-1	luminal epithelium:	n/a	chr20:14593214-14593225
14	CEBPB	chr20:14590232-14590600	HepG2	liver:	n/a	n/a
15	CEBPB	chr20:14581230-14581515	HepG2	liver:	n/a	n/a
16	CEBPB	chr20:14613642-14613876	HepG2	liver:	n/a	chr20:14613780-14613791
17	CEBPB	chr20:14593044-14593407	H1-hESC	embryonic stem cell:	n/a	chr20:14593214-14593225
18	CEBPB	chr20:14590211-14590568	A549	lung:	n/a	chr20:14590221-14590229
19	CEBPB	chr20:14590052-14590701	A549	lung:	n/a	chr20:14590221-14590229
20	CEBPB	chr20:14545235-14545411	A549	lung:	n/a	chr20:14545291-14545302
21	CEBPB	chr20:14593017-14593449	A549	lung:	n/a	chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
22	CEBPB	chr20:14590238-14590540	HepG2	liver:	n/a	n/a
23	CEBPB	chr20:14593004-14593489	Hela-S3	cervix:	n/a	chr20:14593445-14593458 chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
24	CEBPB	chr20:14592940-14593467	HCT-116	colon:	n/a	chr20:14593445-14593458 chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
25	CEBPB	chr20:14592964-14593552	HCT-116	colon:	n/a	chr20:14593445-14593458 chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
26	CEBPB	chr20:14545219-14545478	HepG2	liver:	n/a	chr20:14545291-14545302
27	CEBPB	chr20:14613573-14613990	MCF-7	breast:	n/a	chr20:14613780-14613791
28	CEBPB	chr20:14561314-14561686	MCF-7	breast:	n/a	chr20:14561519-14561532
29	CEBPB	chr20:14543092-14543328	HepG2	liver:	n/a	n/a
30	CEBPB	chr20:14593144-14593394	K562	blood:	n/a	chr20:14593214-14593225
31	CEBPB	chr20:14593052-14593409	IMR90	lung:	n/a	chr20:14593214-14593225
32	CEBPB	chr20:14563541-14564481	Hela-S3	cervix:	n/a	chr20:14563664-14563675
33	CEBPB	chr20:14563511-14563863	A549	lung:	n/a	chr20:14563664-14563675
34	CEBPB	chr20:14561304-14561684	A549	lung:	n/a	chr20:14561519-14561532
35	CEBPB	chr20:14590154-14590600	HepG2	liver:	n/a	chr20:14590221-14590229
36	CEBPB	chr20:14590219-14590579	A549	lung:	n/a	chr20:14590221-14590229
37	CEBPB	chr20:14613594-14613942	H1-hESC	embryonic stem cell:	n/a	chr20:14613780-14613791
38	CEBPB	chr20:14563488-14563850	HepG2	liver:	n/a	chr20:14563664-14563675
39	CEBPB	chr20:14563500-14563833	IMR90	lung:	n/a	chr20:14563664-14563675
40	CEBPB	chr20:14593042-14593402	ECC-1	luminal epithelium:	n/a	chr20:14593214-14593225
41	CEBPB	chr20:14561254-14561773	A549	lung:	n/a	chr20:14561519-14561532
42	CEBPB	chr20:14613653-14613899	A549	lung:	n/a	chr20:14613780-14613791
43	CEBPB	chr20:14603468-14603827	A549	lung:	n/a	n/a
44	CEBPB	chr20:14613601-14613967	HepG2	liver:	n/a	chr20:14613780-14613791
45	CEBPB	chr20:14592901-14593520	A549	lung:	n/a	chr20:14593445-14593458 chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
46	CEBPB	chr20:14593036-14593433	A549	lung:	n/a	chr20:14593419-14593430 chr20:14593214-14593225 chr20:14593417-14593430 chr20:14593419-14593430
47	CEBPD	chr20:14590294-14590459	HepG2	liver:	n/a	n/a
48	CEBPD	chr20:14613613-14613892	HepG2	liver:	n/a	n/a
49	CHD2	chr20:14590063-14590260	HepG2	liver:	n/a	n/a
50	CTCF	chr20:14603404-14603758	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:30441690..30442493-chr20:14547650..14548282,2	MCF-7	breast:
2	chr20:12959607..12961682-chr20:14555879..14557670,2	K562	blood:
3	chr20:14601339..14605162-chr20:14611440..14614800,3	MCF-7	breast:
4	chr20:14593902..14596386-chr20:15052997..15054796,2	K562	blood:
5	chr20:14601339..14605162-chr20:14611440..14614800,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C20orf7-1	chr20:14603520-14603660	ENSG00000227927.1
2	lnc-C20orf7-1	chr20:14602412-14602575	ENSG00000227927.1
3	lnc-C20orf7-1	chr20:14609283-14609554	ENSG00000227927.1
4	lnc-C20orf7-1	chr20:14607710-14607752	ENSG00000227927.1
5	lnc-C20orf7-1	chr20:14617092-14617170	ENSG00000227927.2
6	lnc-C20orf7-1	chr20:14607559-14607752	ENSG00000227927.2
7	lnc-C20orf7-1	chr20:14612487-14612595	ENSG00000227927.2
8	lnc-C20orf7-1	chr20:14609283-14609475	ENSG00000227927.2
9	lnc-C20orf7-4	chr20:14591719-14595690	NONHSAT078719

Variant related genes	Relation type
MACROD2-IT1	TF binding region

Extended variants
information (count: 3545 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:3545 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2423819	chr20:14538864-14538865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571438867	chr20:14538886-14538887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556928774	chr20:14538945-14538946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575277446	chr20:14538958-14538959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375728873	chr20:14538961-14538962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554318485	chr20:14538999-14539000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533878666	chr20:14539014-14539015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572904828	chr20:14539036-14539037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553640958	chr20:14539049-14539050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111935364	chr20:14539075-14539076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565600521	chr20:14539174-14539175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565086555	chr20:14539185-14539186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532234325	chr20:14539210-14539211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191108746	chr20:14539214-14539215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183490055	chr20:14539228-14539229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556961826	chr20:14539236-14539237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529989912	chr20:14539247-14539248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs60273334	chr20:14539271-14539272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs566796449	chr20:14539356-14539357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188989946	chr20:14539386-14539387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552420663	chr20:14539400-14539401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111242607	chr20:14539408-14539409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78447477	chr20:14539421-14539422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556865327	chr20:14539444-14539445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75013837	chr20:14539450-14539451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192983751	chr20:14539469-14539470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6135181	chr20:14539498-14539499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2024920	chr20:14539523-14539524	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs114982012	chr20:14539525-14539526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540299852	chr20:14539621-14539622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370042325	chr20:14539624-14539625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558401883	chr20:14539653-14539654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148185170	chr20:14539679-14539680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544006381	chr20:14539726-14539727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6033976	chr20:14539744-14539745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs183654828	chr20:14539777-14539778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2024921	chr20:14539779-14539780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs141248600	chr20:14539900-14539901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115810786	chr20:14539903-14539904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373827067	chr20:14539925-14539926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550342306	chr20:14539940-14539941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536740522	chr20:14539961-14539962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558254757	chr20:14539976-14539977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145386980	chr20:14539977-14539978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565614277	chr20:14539979-14539980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527721726	chr20:14539986-14539987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76142947	chr20:14539996-14539997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187989428	chr20:14540034-14540035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531892186	chr20:14540047-14540048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76030459	chr20:14540100-14540101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Schizophrenia	20967226	CNVD

Chromatin state (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14535400-14540400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr20:14535400-14540400	Weak transcription	HSMM	muscle
3	chr20:14535400-14542000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr20:14535400-14548800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr20:14537400-14540000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr20:14537400-14540400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr20:14537400-14540400	Weak transcription	HMEC	breast
8	chr20:14537600-14540400	Weak transcription	NHEK	skin
9	chr20:14540000-14541000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr20:14540400-14540800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr20:14540400-14540800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr20:14540400-14540800	Enhancers	HMEC	breast
13	chr20:14540400-14540800	Enhancers	HSMM	muscle
14	chr20:14540400-14541000	Enhancers	NHEK	skin
15	chr20:14540800-14542200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr20:14540800-14542400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr20:14540800-14545800	Weak transcription	HMEC	breast
18	chr20:14541000-14549000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr20:14542000-14542800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr20:14542000-14543000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr20:14542200-14543600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr20:14542400-14542600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr20:14542800-14543800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr20:14542800-14546800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr20:14543000-14547000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr20:14543200-14543600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr20:14543200-14543800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr20:14543400-14543800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr20:14543400-14543800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr20:14543400-14543800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr20:14543400-14543800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr20:14543400-14543800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr20:14543400-14544000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr20:14543400-14544000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr20:14543400-14544000	Enhancers	Fetal Muscle Leg	muscle
36	chr20:14543400-14544200	Enhancers	Fetal Intestine Large	intestine
37	chr20:14543400-14544200	Enhancers	Fetal Intestine Small	intestine
38	chr20:14543600-14549000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr20:14544000-14545800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr20:14545800-14546000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr20:14546400-14546800	Enhancers	HSMM	muscle
42	chr20:14546800-14547600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr20:14546800-14547600	Weak transcription	HSMM	muscle
44	chr20:14547000-14547200	Enhancers	NHEK	skin
45	chr20:14547000-14547600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr20:14547000-14548200	Enhancers	NHDF-Ad	bronchial
47	chr20:14547200-14548200	Weak transcription	NHEK	skin
48	chr20:14547600-14547800	Enhancers	HSMM	muscle
49	chr20:14547600-14548000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr20:14547600-14548800	Weak transcription	Muscle Satellite Cultured Cells	--

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