Variant report

Variant	nsv585581
Chromosome Location	chr20:15143806-15177309
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	chr20:15144336-15144711	HepG2	liver:	n/a	n/a
2	BACH1	chr20:15144468-15144534	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr20:15162902-15163112	H1-hESC	embryonic stem cell:	n/a	chr20:15162991-15163000 chr20:15162991-15163000 chr20:15162989-15163000 chr20:15162991-15163000 chr20:15162991-15163000 chr20:15162990-15163001
4	CEBPB	chr20:15150774-15151075	HepG2	liver:	n/a	chr20:15150914-15150925
5	CEBPB	chr20:15169103-15169442	Hela-S3	cervix:	n/a	chr20:15169267-15169284
6	CEBPB	chr20:15166769-15166910	HepG2	liver:	n/a	n/a
7	CEBPB	chr20:15151692-15151964	A549	lung:	n/a	chr20:15151830-15151841
8	CEBPB	chr20:15162836-15163163	A549	lung:	n/a	chr20:15162991-15163000 chr20:15162991-15163000 chr20:15162989-15163000 chr20:15162991-15163000 chr20:15162991-15163000 chr20:15162990-15163001
9	CEBPB	chr20:15162823-15163175	IMR90	lung:	n/a	chr20:15162991-15163000 chr20:15162991-15163000 chr20:15162989-15163000 chr20:15162991-15163000 chr20:15162991-15163000 chr20:15162990-15163001
10	CEBPB	chr20:15162823-15163186	HepG2	liver:	n/a	chr20:15162991-15163000 chr20:15162991-15163000 chr20:15162989-15163000 chr20:15162991-15163000 chr20:15162991-15163000 chr20:15162990-15163001
11	CEBPB	chr20:15169088-15169464	A549	lung:	n/a	chr20:15169267-15169284
12	CEBPB	chr20:15151669-15151977	HepG2	liver:	n/a	chr20:15151830-15151841
13	CEBPB	chr20:15169094-15169462	HepG2	liver:	n/a	chr20:15169267-15169284
14	CEBPB	chr20:15169095-15169451	IMR90	lung:	n/a	chr20:15169267-15169284
15	CEBPB	chr20:15169144-15169403	H1-hESC	embryonic stem cell:	n/a	chr20:15169267-15169284
16	CEBPB	chr20:15146524-15146700	HepG2	liver:	n/a	n/a
17	CTCF	chr20:15173070-15173102	Lung_OC	lung:	n/a	n/a
18	CTCF	chr20:15157688-15157748	MCF-7	breast:	n/a	n/a
19	CTCF	chr20:15166660-15166810	A549	lung:	n/a	n/a
20	E2F4	chr20:15153443-15153728	MCF10A-Er-Src	breast:	n/a	n/a
21	EGR1	chr20:15157656-15158034	ECC-1	luminal epithelium:	n/a	n/a
22	EP300	chr20:15176008-15176311	SK-N-SH_RA	brain:	n/a	n/a
23	EP300	chr20:15175851-15176581	SK-N-SH	brain:	n/a	n/a
24	EP300	chr20:15165600-15165937	SK-N-SH_RA	brain:	n/a	n/a
25	EP300	chr20:15166505-15166986	HepG2	liver:	n/a	chr20:15166815-15166829
26	EP300	chr20:15165946-15166362	SK-N-SH_RA	brain:	n/a	n/a
27	EP300	chr20:15172946-15173748	SK-N-SH	brain:	n/a	n/a
28	EP300	chr20:15165961-15166309	SK-N-SH_RA	brain:	n/a	n/a
29	EP300	chr20:15166478-15166956	HepG2	liver:	n/a	chr20:15166815-15166829
30	EP300	chr20:15144257-15144694	HepG2	liver:	n/a	n/a
31	EP300	chr20:15176090-15176334	SK-N-SH_RA	brain:	n/a	n/a
32	EP300	chr20:15173135-15173397	SK-N-SH_RA	brain:	n/a	n/a
33	FOSL2	chr20:15175997-15176484	SK-N-SH	brain:	n/a	n/a
34	FOXA1	chr20:15166494-15166859	HepG2	liver:	n/a	n/a
35	FOXA1	chr20:15166456-15166860	HepG2	liver:	n/a	n/a
36	FOXA1	chr20:15166491-15166989	HepG2	liver:	n/a	n/a
37	FOXA1	chr20:15166380-15166894	HepG2	liver:	n/a	n/a
38	FOXA1	chr20:15144220-15144682	HepG2	liver:	n/a	n/a
39	FOXA2	chr20:15166479-15166879	HepG2	liver:	n/a	n/a
40	FOXM1	chr20:15175964-15176638	SK-N-SH	brain:	n/a	n/a
41	GATA3	chr20:15169521-15169721	SH-SY5Y	brain:	n/a	n/a
42	GATA3	chr20:15165959-15166552	SK-N-SH	brain:	n/a	chr20:15166471-15166481
43	GATA3	chr20:15175839-15176695	SK-N-SH	brain:	n/a	n/a
44	GATA3	chr20:15150430-15150503	SH-SY5Y	brain:	n/a	chr20:15150433-15150440
45	GATA3	chr20:15175833-15176796	SK-N-SH	brain:	n/a	n/a
46	GATA3	chr20:15165907-15166396	SK-N-SH	brain:	n/a	n/a
47	JUN	chr20:15144395-15144625	HepG2	liver:	n/a	chr20:15144502-15144515
48	JUND	chr20:15175905-15176522	SK-N-SH	brain:	n/a	n/a
49	JUND	chr20:15175881-15176436	SK-N-SH	brain:	n/a	n/a
50	JUND	chr20:15144347-15144606	HepG2	liver:	n/a	chr20:15144456-15144467

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:15176557-15176607	GM19239	blood:	n/a
2	chr20:15176830-15176880	HPAEpiC	pulmonary alveolar:	n/a
3	chr20:15176557-15176607	AG04449	skin:	fetal
4	chr20:15176557-15176607	ovcar-3	ovarian:	n/a
5	chr20:15176557-15176607	GM06990	blood:	n/a
6	chr20:15176830-15176880	U87	brain:	n/a
7	chr20:15176557-15176607	PANC-1	pancreas:	n/a
8	chr20:15176557-15176607	Hela-S3	cervix:	n/a
9	chr20:15176557-15176607	AoSMC	blood vessel:	n/a
10	chr20:15176830-15176880	PrEC	prostate:	n/a
11	chr20:15176557-15176607	HMEC	breast:	n/a
12	chr20:15176830-15176880	NHDF-neo	bronchial:	n/a
13	chr20:15176557-15176607	NHDF-neo	bronchial:	n/a
14	chr20:15176557-15176607	AG04450	lung:	fetal
15	chr20:15176557-15176607	Caco-2	colon:	n/a
16	chr20:15176830-15176880	HEK293	kidney:	embryo
17	chr20:15176830-15176880	ProgFib	skin:	n/a
18	chr20:15176557-15176607	ECC-1	luminal epithelium:	n/a
19	chr20:15176830-15176880	HIPEpiC	eye:	n/a
20	chr20:15176557-15176607	GM12878	blood:	n/a
21	chr20:15176830-15176880	Jurkat	blood:	n/a
22	chr20:15176557-15176607	NH-A	brain:	n/a
23	chr20:15176830-15176880	Hela-S3	cervix:	n/a
24	chr20:15176557-15176607	HRCEpiC	kidney:	n/a
25	chr20:15176830-15176880	GM19239	blood:	n/a
26	chr20:15176830-15176880	K562	blood:	n/a
27	chr20:15176830-15176880	HCM	heart:	n/a
28	chr20:15176557-15176607	GM12892	blood:	n/a
29	chr20:15176557-15176607	HepG2	liver:	n/a
30	chr20:15176830-15176880	PANC-1	pancreas:	n/a
31	chr20:15176830-15176880	GM12892	blood:	n/a
32	chr20:15176830-15176880	AG04450	lung:	fetal
33	chr20:15176830-15176880	HRPEpiC	eye:	n/a
34	chr20:15176830-15176880	NB4	blood:	n/a
35	chr20:15176830-15176880	BE2_C	brain:	n/a
36	chr20:15176830-15176880	MCF10A-Er-Src	breast:	n/a
37	chr20:15176830-15176880	HMEC	breast:	n/a
38	chr20:15176830-15176880	HL-60	blood:	n/a
39	chr20:15176557-15176607	BJ	skin:	n/a
40	chr20:15176557-15176607	MCF-7	breast:	n/a
41	chr20:15176557-15176607	HL-60	blood:	n/a
42	chr20:15176557-15176607	SAEC	small airway:	n/a
43	chr20:15176557-15176607	RPTEC	kidney:	n/a
44	chr20:15176557-15176607	HEEpiC	esophagus:	n/a
45	chr20:15176557-15176607	LNCaP	prostate:	n/a
46	chr20:15176830-15176880	HCPEpiC	choroid plexus:	n/a
47	chr20:15176830-15176880	HCF	heart:	n/a
48	chr20:15176830-15176880	AG09309	skin:	n/a
49	chr20:15176830-15176880	SAEC	small airway:	n/a
50	chr20:15176830-15176880	HRCEpiC	kidney:	n/a

Variant related genes	Relation type
MACROD2	TF binding region
MACROD2	CpG island

Extended variants
information (count: 1025 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1025 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4813172	chr20:15143806-15143807	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs193068634	chr20:15143817-15143818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556778189	chr20:15143866-15143867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148478602	chr20:15143903-15143904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62202855	chr20:15143910-15143911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185549926	chr20:15143931-15143932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11428226	chr20:15143950-15143951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561048579	chr20:15143989-15143990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573056631	chr20:15144010-15144011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71339377	chr20:15144012-15144013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs462394	chr20:15144014-15144015	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs532698851	chr20:15144054-15144055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188461961	chr20:15144058-15144059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115593214	chr20:15144093-15144094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs193013000	chr20:15144098-15144099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370774692	chr20:15144103-15144104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73258849	chr20:15144106-15144107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188634367	chr20:15144112-15144113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567067564	chr20:15144153-15144154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145073784	chr20:15144192-15144193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113713077	chr20:15144230-15144231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571219806	chr20:15144247-15144248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538379899	chr20:15144251-15144252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76355622	chr20:15144294-15144295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76266205	chr20:15144314-15144315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552181803	chr20:15144337-15144338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199879619	chr20:15144338-15144339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536056889	chr20:15144388-15144389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114877268	chr20:15144397-15144398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573055070	chr20:15144443-15144444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370493180	chr20:15144464-15144465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536620056	chr20:15144483-15144484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540516293	chr20:15144494-15144495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183712637	chr20:15144503-15144504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577296236	chr20:15144523-15144524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113157728	chr20:15144527-15144528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6135355	chr20:15144559-15144560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562996063	chr20:15144602-15144603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530183123	chr20:15144626-15144627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190779910	chr20:15144647-15144648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs413113	chr20:15144663-15144664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs528023344	chr20:15144682-15144683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116425901	chr20:15144731-15144732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570937280	chr20:15144752-15144753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182196033	chr20:15144753-15144754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147549532	chr20:15144754-15144755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6034117	chr20:15144763-15144764	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs567679222	chr20:15144824-15144825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187269786	chr20:15144825-15144826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374266465	chr20:15144833-15144834	Weak transcription	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
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15143400-15144400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr20:15143400-15144600	Enhancers	HepG2	liver
3	chr20:15143400-15156400	Weak transcription	Thymus	Thymus
4	chr20:15143600-15144000	Weak transcription	A549	lung
5	chr20:15143600-15144000	Enhancers	GM12878-XiMat	blood
6	chr20:15143800-15144600	Enhancers	Dnd41	blood
7	chr20:15144000-15144600	Enhancers	A549	lung
8	chr20:15148600-15149200	Enhancers	Colon Smooth Muscle	Colon
9	chr20:15156400-15156800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr20:15156400-15157200	ZNF genes & repeats	Thymus	Thymus
11	chr20:15156400-15157200	ZNF genes & repeats	Dnd41	blood
12	chr20:15156400-15157800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr20:15156600-15157600	ZNF genes & repeats	Spleen	Spleen
14	chr20:15156600-15157800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr20:15158400-15159800	Weak transcription	Fetal Brain Male	brain
16	chr20:15159800-15160400	Enhancers	Fetal Brain Female	brain
17	chr20:15159800-15160600	Enhancers	Brain Germinal Matrix	brain
18	chr20:15159800-15161000	Enhancers	Fetal Brain Male	brain
19	chr20:15160000-15160400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr20:15160000-15160400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr20:15160000-15160400	Enhancers	Stomach Smooth Muscle	stomach
22	chr20:15160200-15160800	Enhancers	Colon Smooth Muscle	Colon
23	chr20:15160800-15162600	Weak transcription	Colon Smooth Muscle	Colon
24	chr20:15162600-15162800	Enhancers	Colon Smooth Muscle	Colon
25	chr20:15162600-15163200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr20:15162800-15163200	Weak transcription	Colon Smooth Muscle	Colon
27	chr20:15163200-15163600	Enhancers	Colon Smooth Muscle	Colon
28	chr20:15163200-15163800	Enhancers	NHEK	skin
29	chr20:15163200-15166200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr20:15166000-15166600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr20:15166000-15167000	Enhancers	Fetal Intestine Large	intestine
32	chr20:15166000-15167400	Enhancers	HepG2	liver
33	chr20:15166200-15166600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr20:15166600-15167000	Enhancers	Fetal Intestine Small	intestine
35	chr20:15169400-15169600	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr20:15169600-15170600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr20:15170600-15170800	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr20:15171800-15172200	Enhancers	H1 Cell Line	embryonic stem cell
39	chr20:15172000-15172400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr20:15172000-15172400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr20:15175800-15176000	Enhancers	Primary B cells from peripheral blood	blood
42	chr20:15175800-15176800	Enhancers	HMEC	breast
43	chr20:15176000-15177200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr20:15177000-15177600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr20:15177200-15178400	Enhancers	Primary B cells from peripheral blood	blood

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