Variant report

Variant	nsv1066112
Chromosome Location	chr20:15165512-15206129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:187)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:187 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr20:15180601-15181187	GM12878	blood:	n/a	n/a
2	ATF2	chr20:15180324-15181228	GM12878	blood:	n/a	n/a
3	BATF	chr20:15180351-15181277	GM12878	blood:	n/a	chr20:15180905-15180913
4	BATF	chr20:15180677-15181088	GM12878	blood:	n/a	chr20:15180905-15180913
5	BCL11A	chr20:15180658-15181150	GM12878	blood:	n/a	n/a
6	BCL11A	chr20:15180758-15180983	GM12878	blood:	n/a	n/a
7	BCL3	chr20:15180753-15181061	GM12878	blood:	n/a	n/a
8	BHLHE40	chr20:15180594-15181323	GM12878	blood:	n/a	n/a
9	CEBPB	chr20:15169094-15169462	HepG2	liver:	n/a	chr20:15169267-15169284
10	CEBPB	chr20:15169095-15169451	IMR90	lung:	n/a	chr20:15169267-15169284
11	CEBPB	chr20:15169088-15169464	A549	lung:	n/a	chr20:15169267-15169284
12	CEBPB	chr20:15169103-15169442	Hela-S3	cervix:	n/a	chr20:15169267-15169284
13	CEBPB	chr20:15166769-15166910	HepG2	liver:	n/a	n/a
14	CEBPB	chr20:15169144-15169403	H1-hESC	embryonic stem cell:	n/a	chr20:15169267-15169284
15	CREB1	chr20:15180584-15181175	GM12878	blood:	n/a	n/a
16	CTCF	chr20:15192095-15192185	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr20:15200980-15201130	HMEC	breast:	n/a	n/a
18	CTCF	chr20:15166660-15166810	A549	lung:	n/a	n/a
19	CTCF	chr20:15179870-15179932	Fibrobl	skin:	n/a	n/a
20	CTCF	chr20:15178757-15178820	GM10266	blood:	n/a	n/a
21	CTCF	chr20:15173070-15173102	Lung_OC	lung:	n/a	n/a
22	CTCF	chr20:15201060-15201210	HMEC	breast:	n/a	n/a
23	CTCF	chr20:15200860-15201010	NHEK	skin:	n/a	n/a
24	E2F4	chr20:15183953-15184164	MCF10A-Er-Src	breast:	n/a	n/a
25	EBF1	chr20:15180431-15181310	GM12878	blood:	n/a	n/a
26	EBF1	chr20:15180715-15181040	GM12878	blood:	n/a	n/a
27	EBF1	chr20:15180674-15181131	GM12878	blood:	n/a	n/a
28	EP300	chr20:15201770-15202206	SK-N-SH_RA	brain:	n/a	chr20:15201984-15201993
29	EP300	chr20:15165946-15166362	SK-N-SH_RA	brain:	n/a	n/a
30	EP300	chr20:15180432-15181115	GM12878	blood:	n/a	n/a
31	EP300	chr20:15172946-15173748	SK-N-SH	brain:	n/a	n/a
32	EP300	chr20:15165600-15165937	SK-N-SH_RA	brain:	n/a	n/a
33	EP300	chr20:15166505-15166986	HepG2	liver:	n/a	chr20:15166815-15166829
34	EP300	chr20:15173135-15173397	SK-N-SH_RA	brain:	n/a	n/a
35	EP300	chr20:15176008-15176311	SK-N-SH_RA	brain:	n/a	n/a
36	EP300	chr20:15175851-15176581	SK-N-SH	brain:	n/a	n/a
37	EP300	chr20:15176090-15176334	SK-N-SH_RA	brain:	n/a	n/a
38	EP300	chr20:15201769-15202313	SK-N-SH_RA	brain:	n/a	chr20:15201984-15201993
39	EP300	chr20:15180598-15181158	GM12878	blood:	n/a	n/a
40	EP300	chr20:15203761-15204436	SK-N-SH_RA	brain:	n/a	n/a
41	EP300	chr20:15201606-15202334	SK-N-SH	brain:	n/a	chr20:15201984-15201993
42	EP300	chr20:15166478-15166956	HepG2	liver:	n/a	chr20:15166815-15166829
43	EP300	chr20:15165961-15166309	SK-N-SH_RA	brain:	n/a	n/a
44	FOS	chr20:15201851-15202030	MCF10A-Er-Src	breast:	n/a	chr20:15201982-15201991
45	FOS	chr20:15200925-15201190	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr20:15201695-15202368	HUVEC	blood vessel:	n/a	chr20:15201982-15201991 chr20:15202330-15202342
47	FOS	chr20:15201550-15201742	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr20:15200877-15201199	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr20:15200925-15201216	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr20:15201547-15201747	MCF10A-Er-Src	breast:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:15176557-15176607	HRCEpiC	kidney:	n/a
2	chr20:15176557-15176607	T-47D	breast:	n/a
3	chr20:15176557-15176607	AoSMC	blood vessel:	n/a
4	chr20:15176830-15176880	MCF-7	breast:	n/a
5	chr20:15177509-15177559	AG10803	skin:	n/a
6	chr20:15176830-15176880	NHBE	bronchial:	n/a
7	chr20:15176830-15176880	ovcar-3	ovarian:	n/a
8	chr20:15177509-15177559	HPAEpiC	pulmonary alveolar:	n/a
9	chr20:15177509-15177559	NHDF-neo	bronchial:	n/a
10	chr20:15176557-15176607	HCT-116	colon:	n/a
11	chr20:15176557-15176607	BJ	skin:	n/a
12	chr20:15176557-15176607	PANC-1	pancreas:	n/a
13	chr20:15176557-15176607	NB4	blood:	n/a
14	chr20:15176557-15176607	HMEC	breast:	n/a
15	chr20:15176557-15176607	AG10803	skin:	n/a
16	chr20:15176557-15176607	AG09309	skin:	n/a
17	chr20:15176557-15176607	Hela-S3	cervix:	n/a
18	chr20:15177509-15177559	SAEC	small airway:	n/a
19	chr20:15176830-15176880	HUVEC	blood vessel:	n/a
20	chr20:15176830-15176880	CMK	blood:	n/a
21	chr20:15176830-15176880	AG04449	skin:	fetal
22	chr20:15176830-15176880	AoSMC	blood vessel:	n/a
23	chr20:15177509-15177559	HepG2	liver:	n/a
24	chr20:15176557-15176607	SK-N-SH_RA	brain:	n/a
25	chr20:15176557-15176607	GM06990	blood:	n/a
26	chr20:15176830-15176880	ECC-1	luminal epithelium:	n/a
27	chr20:15176557-15176607	NT2-D1	testis:	n/a
28	chr20:15177509-15177559	HCM	heart:	n/a
29	chr20:15177509-15177559	HEEpiC	esophagus:	n/a
30	chr20:15176830-15176880	HCF	heart:	n/a
31	chr20:15177509-15177559	MCF10A-Er-Src	breast:	n/a
32	chr20:15177509-15177559	SK-N-MC	brain:	n/a
33	chr20:15176557-15176607	MCF-7	breast:	n/a
34	chr20:15176830-15176880	HRCEpiC	kidney:	n/a
35	chr20:15176557-15176607	Hepatocyte	liver:	n/a
36	chr20:15176830-15176880	SAEC	small airway:	n/a
37	chr20:15177509-15177559	HCPEpiC	choroid plexus:	n/a
38	chr20:15176830-15176880	HL-60	blood:	n/a
39	chr20:15177509-15177559	PrEC	prostate:	n/a
40	chr20:15177509-15177559	HMEC	breast:	n/a
41	chr20:15177509-15177559	H1-hESC	embryonic stem cell:	embryo
42	chr20:15176830-15176880	HCT-116	colon:	n/a
43	chr20:15177509-15177559	LNCaP	prostate:	n/a
44	chr20:15176830-15176880	HPAEpiC	pulmonary alveolar:	n/a
45	chr20:15176557-15176607	ECC-1	luminal epithelium:	n/a
46	chr20:15176557-15176607	GM12891	blood:	n/a
47	chr20:15176830-15176880	HAEpiC	amniotic membrane:	n/a
48	chr20:15177509-15177559	PFSK-1	brain:	n/a
49	chr20:15177509-15177559	BJ	skin:	n/a
50	chr20:15177509-15177559	HRCEpiC	kidney:	n/a

No data

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

Extended variants
information (count: 864 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:864 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533856703	chr20:15165520-15165521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188624628	chr20:15165572-15165573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373590988	chr20:15165616-15165617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553796670	chr20:15165626-15165627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566736992	chr20:15165627-15165628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367687228	chr20:15165663-15165664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558805073	chr20:15165709-15165710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76585093	chr20:15165758-15165759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576562794	chr20:15165836-15165837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199897998	chr20:15165876-15165877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535685427	chr20:15165894-15165895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374919227	chr20:15165922-15165923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556328066	chr20:15165948-15165949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574837864	chr20:15165960-15165961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542094080	chr20:15165998-15165999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193197998	chr20:15166013-15166014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144761075	chr20:15166100-15166101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76159985	chr20:15166115-15166116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183030295	chr20:15166151-15166152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34707860	chr20:15166177-15166178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564840025	chr20:15166198-15166199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576864288	chr20:15166224-15166225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187281801	chr20:15166227-15166228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573776833	chr20:15166278-15166279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148170193	chr20:15166282-15166283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530051917	chr20:15166283-15166284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548518792	chr20:15166322-15166323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191730206	chr20:15166346-15166347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184047067	chr20:15166347-15166348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189464264	chr20:15166356-15166357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6131648	chr20:15166379-15166380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555980810	chr20:15166398-15166399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144061580	chr20:15166423-15166424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570894995	chr20:15166468-15166469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147251819	chr20:15166489-15166490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77478570	chr20:15166503-15166504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114076728	chr20:15166519-15166520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140743569	chr20:15166532-15166533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554175377	chr20:15166534-15166535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572662149	chr20:15166540-15166541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192168487	chr20:15166552-15166553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185848587	chr20:15166710-15166711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11699801	chr20:15166751-15166752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs80250024	chr20:15166768-15166769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6110544	chr20:15166775-15166776	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs544309226	chr20:15166785-15166786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144601265	chr20:15166805-15166806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190361437	chr20:15166852-15166853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181618027	chr20:15166878-15166879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115922866	chr20:15166882-15166883	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
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15163200-15166200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr20:15166000-15166600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr20:15166000-15167000	Enhancers	Fetal Intestine Large	intestine
4	chr20:15166000-15167400	Enhancers	HepG2	liver
5	chr20:15166200-15166600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr20:15166600-15167000	Enhancers	Fetal Intestine Small	intestine
7	chr20:15169400-15169600	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr20:15169600-15170600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr20:15170600-15170800	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr20:15171800-15172200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr20:15172000-15172400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr20:15172000-15172400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr20:15175800-15176000	Enhancers	Primary B cells from peripheral blood	blood
14	chr20:15175800-15176800	Enhancers	HMEC	breast
15	chr20:15176000-15177200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr20:15177000-15177600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr20:15177200-15178400	Enhancers	Primary B cells from peripheral blood	blood
18	chr20:15178600-15179000	Active TSS	Lung	lung
19	chr20:15178600-15180800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr20:15179800-15180000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr20:15180000-15180600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr20:15180000-15181600	Enhancers	GM12878-XiMat	blood
23	chr20:15180000-15186600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr20:15180800-15181000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr20:15184600-15185600	Enhancers	Brain Germinal Matrix	brain
26	chr20:15185000-15185400	Enhancers	Fetal Heart	heart
27	chr20:15185600-15186600	Weak transcription	Brain Germinal Matrix	brain
28	chr20:15186000-15186600	Enhancers	NHDF-Ad	bronchial
29	chr20:15186600-15186800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr20:15186600-15186800	Enhancers	Brain Germinal Matrix	brain
31	chr20:15189200-15189600	Enhancers	GM12878-XiMat	blood
32	chr20:15189400-15189600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr20:15199200-15205000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr20:15199800-15202600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr20:15199800-15205200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr20:15200000-15204600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr20:15200200-15200400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr20:15200200-15201000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr20:15200200-15201200	Enhancers	NHEK	skin
40	chr20:15200200-15202200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr20:15200200-15202200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr20:15200200-15202400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr20:15200200-15202600	Enhancers	HMEC	breast
44	chr20:15200200-15202600	Enhancers	NHDF-Ad	bronchial
45	chr20:15200200-15203600	Enhancers	Brain Germinal Matrix	brain
46	chr20:15200200-15203800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr20:15200200-15204000	Enhancers	H9 Cell Line	embryonic stem cell
48	chr20:15200200-15204000	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr20:15200400-15201400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr20:15200400-15202200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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