Variant report

Variant	nsv1065426
Chromosome Location	chr20:14426642-14478256
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	BACH1	chr20:14433593-14433608	K562	blood:	n/a	n/a
2	BATF	chr20:14470918-14471200	GM12878	blood:	n/a	chr20:14471085-14471095 chr20:14471084-14471095
3	BRCA1	chr20:14477554-14478434	Hela-S3	cervix:	n/a	n/a
4	BRCA1	chr20:14462597-14462814	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr20:14477615-14478628	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr20:14451786-14451962	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr20:14456905-14457062	HepG2	liver:	n/a	chr20:14456912-14456923
8	CEBPB	chr20:14460495-14460749	HepG2	liver:	n/a	chr20:14460578-14460589
9	CEBPB	chr20:14429993-14430289	A549	lung:	n/a	chr20:14430150-14430161
10	CEBPB	chr20:14462450-14462948	IMR90	lung:	n/a	n/a
11	CEBPB	chr20:14430046-14430292	HepG2	liver:	n/a	chr20:14430150-14430161
12	CEBPB	chr20:14430047-14430271	Hela-S3	cervix:	n/a	chr20:14430150-14430161
13	CEBPB	chr20:14430041-14430324	A549	lung:	n/a	chr20:14430150-14430161
14	CEBPB	chr20:14468982-14469255	A549	lung:	n/a	chr20:14469139-14469152 chr20:14469139-14469150 chr20:14469078-14469089 chr20:14469139-14469150 chr20:14469075-14469092 chr20:14469078-14469091
15	CEBPB	chr20:14468833-14469298	Hela-S3	cervix:	n/a	chr20:14469139-14469152 chr20:14469139-14469150 chr20:14469078-14469089 chr20:14469139-14469150 chr20:14469075-14469092 chr20:14469078-14469091
16	CEBPB	chr20:14460493-14460767	IMR90	lung:	n/a	chr20:14460578-14460589
17	CEBPB	chr20:14462739-14462794	A549	lung:	n/a	n/a
18	CEBPB	chr20:14471046-14471218	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr20:14457842-14458199	IMR90	lung:	n/a	n/a
20	CEBPB	chr20:14429979-14430347	IMR90	lung:	n/a	chr20:14430150-14430161
21	CEBPB	chr20:14462595-14462930	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr20:14457876-14458179	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr20:14468942-14469246	HepG2	liver:	n/a	chr20:14469139-14469152 chr20:14469139-14469150 chr20:14469078-14469089 chr20:14469139-14469150 chr20:14469075-14469092 chr20:14469078-14469091
24	CTCF	chr20:14459500-14459650	GM06990	blood:	n/a	n/a
25	CTCF	chr20:14459765-14459845	NHEK	skin:	n/a	n/a
26	CTCF	chr20:14459760-14459910	NHEK	skin:	n/a	n/a
27	CTCF	chr20:14428300-14428450	HAc	cerebellar:	n/a	n/a
28	CTCF	chr20:14459820-14459970	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr20:14459660-14459810	GM12872	blood:	n/a	n/a
30	E2F4	chr20:14468128-14468466	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr20:14462632-14462797	MCF10A-Er-Src	breast:	n/a	n/a
32	E2F4	chr20:14426686-14426883	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chr20:14430076-14430341	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr20:14457663-14458174	MCF10A-Er-Src	breast:	n/a	chr20:14457736-14457748
35	E2F6	chr20:14451625-14451885	H1-hESC	embryonic stem cell:	n/a	n/a
36	EBF1	chr20:14451603-14451969	GM12878	blood:	n/a	n/a
37	EBF1	chr20:14451684-14451880	GM12878	blood:	n/a	n/a
38	EBF1	chr20:14471041-14471074	GM12878	blood:	n/a	n/a
39	EP300	chr20:14462512-14462862	Hela-S3	cervix:	n/a	n/a
40	EP300	chr20:14457883-14458064	Hela-S3	cervix:	n/a	n/a
41	EP300	chr20:14468849-14469256	Hela-S3	cervix:	n/a	chr20:14469218-14469231
42	EP300	chr20:14477634-14478443	Hela-S3	cervix:	n/a	chr20:14478200-14478208 chr20:14478120-14478134 chr20:14478124-14478133
43	FOS	chr20:14429909-14430486	MCF10A-Er-Src	breast:	n/a	chr20:14430243-14430254
44	FOS	chr20:14430008-14430395	MCF10A-Er-Src	breast:	n/a	chr20:14430243-14430254
45	FOS	chr20:14425837-14426933	MCF10A-Er-Src	breast:	n/a	chr20:14426184-14426192 chr20:14426182-14426194 chr20:14426182-14426193
46	FOS	chr20:14462510-14462884	MCF10A-Er-Src	breast:	n/a	chr20:14462690-14462701
47	FOS	chr20:14425854-14426924	MCF10A-Er-Src	breast:	n/a	chr20:14426184-14426192 chr20:14426182-14426194 chr20:14426182-14426193
48	FOS	chr20:14457712-14458181	MCF10A-Er-Src	breast:	n/a	chr20:14457735-14457744
49	FOS	chr20:14471041-14471239	MCF10A-Er-Src	breast:	n/a	chr20:14471087-14471096 chr20:14471087-14471097 chr20:14471088-14471096 chr20:14471088-14471095 chr20:14471086-14471097
50	FOS	chr20:14430047-14430482	HUVEC	blood vessel:	n/a	chr20:14430243-14430254

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:14469605..14471318-chr20:14479870..14481906,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C20orf7-3	chr20:14474125-14474154	NONHSAT078714

Variant related genes	Relation type
MACROD2	TF binding region

Extended variants
information (count: 1655 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1655 , 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	rs561557458	chr20:14426649-14426650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541489949	chr20:14426710-14426711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142672869	chr20:14426720-14426721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550537397	chr20:14426769-14426770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6074740	chr20:14426787-14426788	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs539290578	chr20:14426798-14426799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13044911	chr20:14426808-14426809	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550251525	chr20:14426873-14426874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146960240	chr20:14426880-14426881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6074741	chr20:14426892-14426893	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs182450593	chr20:14426898-14426899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187585209	chr20:14426969-14426970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537441346	chr20:14426988-14426989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138055134	chr20:14427002-14427003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574223531	chr20:14427026-14427027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143521901	chr20:14427097-14427098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529494582	chr20:14427226-14427227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545662022	chr20:14427232-14427233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552771210	chr20:14427280-14427281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572972071	chr20:14427296-14427297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139350781	chr20:14427308-14427309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561814236	chr20:14427324-14427325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530469138	chr20:14427389-14427390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544228920	chr20:14427407-14427408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564029584	chr20:14427414-14427415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74333038	chr20:14427466-14427467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552872870	chr20:14427468-14427469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566167980	chr20:14427471-14427472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528668067	chr20:14427478-14427479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73256930	chr20:14427481-14427482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568545740	chr20:14427487-14427488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537110270	chr20:14427489-14427490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183706603	chr20:14427524-14427525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570488296	chr20:14427529-14427530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540254251	chr20:14427543-14427544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539376754	chr20:14427548-14427549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6079445	chr20:14427551-14427552	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs375937105	chr20:14427611-14427612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572995795	chr20:14427661-14427662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149644346	chr20:14427667-14427668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549566816	chr20:14427755-14427756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6079446	chr20:14427757-14427758	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs140025382	chr20:14427808-14427809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188750412	chr20:14427839-14427840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143544426	chr20:14427854-14427855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76499437	chr20:14427909-14427910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546552065	chr20:14427928-14427929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559983124	chr20:14427955-14427956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528724990	chr20:14427956-14427957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139649020	chr20:14427991-14427992	Enhancers 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
Breast cancer	17142309	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:224 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14422400-14429800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:14424400-14428200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr20:14425400-14427000	Enhancers	HUVEC	blood vessel
4	chr20:14425600-14427200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr20:14425800-14427200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr20:14425800-14427400	Enhancers	NHDF-Ad	bronchial
7	chr20:14425800-14427600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr20:14426000-14426800	Enhancers	HMEC	breast
9	chr20:14426200-14426800	Enhancers	Hela-S3	cervix
10	chr20:14426200-14427400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr20:14426400-14426800	Enhancers	NHLF	lung
12	chr20:14426400-14427200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr20:14426400-14430000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr20:14426600-14429800	Weak transcription	A549	lung
15	chr20:14426600-14429800	Weak transcription	NHEK	skin
16	chr20:14426800-14427200	Weak transcription	Hela-S3	cervix
17	chr20:14426800-14429800	Weak transcription	NHLF	lung
18	chr20:14426800-14430400	Weak transcription	HMEC	breast
19	chr20:14427000-14427400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr20:14427000-14427400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr20:14427000-14427400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr20:14427000-14427600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr20:14427000-14429800	Weak transcription	HUVEC	blood vessel
24	chr20:14427200-14427400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr20:14427200-14427400	Enhancers	Hela-S3	cervix
26	chr20:14427200-14428400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr20:14427200-14430400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr20:14427400-14433800	Weak transcription	Hela-S3	cervix
29	chr20:14427600-14429800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr20:14428200-14429600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr20:14428400-14429000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr20:14429000-14429800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr20:14429200-14430400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr20:14429600-14430000	Enhancers	Brain Hippocampus Middle	brain
35	chr20:14429600-14430400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr20:14429600-14430600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr20:14429600-14430600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr20:14429600-14431600	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr20:14429800-14430200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr20:14429800-14430200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr20:14429800-14430600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr20:14429800-14430600	Enhancers	NHLF	lung
43	chr20:14429800-14430800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr20:14429800-14430800	Enhancers	A549	lung
45	chr20:14429800-14430800	Enhancers	HUVEC	blood vessel
46	chr20:14429800-14431000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr20:14429800-14431200	Enhancers	NHEK	skin
48	chr20:14430000-14430600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr20:14430200-14430400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr20:14430400-14430600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links