Variant report

Variant	nsv532514
Chromosome Location	chr20:14097780-14288315
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	chr20:14122927-14123102	HepG2	liver:	n/a	n/a
2	ATF3	chr20:14122829-14123179	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr20:14194690-14195019	K562	blood:	n/a	chr20:14194846-14194860
4	BACH1	chr20:14200766-14201092	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr20:14194646-14195061	H1-hESC	embryonic stem cell:	n/a	chr20:14194846-14194860
6	BATF	chr20:14213355-14213690	GM12878	blood:	n/a	n/a
7	BATF	chr20:14213283-14213671	GM12878	blood:	n/a	n/a
8	BHLHE40	chr20:14213326-14213653	GM12878	blood:	n/a	n/a
9	BRCA1	chr20:14245586-14245671	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr20:14171621-14171896	MCF-7	breast:	n/a	chr20:14171773-14171784
11	CEBPB	chr20:14123915-14124258	HepG2	liver:	n/a	chr20:14124065-14124076
12	CEBPB	chr20:14189541-14190019	MCF-7	breast:	n/a	chr20:14189866-14189877 chr20:14189841-14189852
13	CEBPB	chr20:14160626-14160797	HepG2	liver:	n/a	n/a
14	CEBPB	chr20:14260937-14261232	A549	lung:	n/a	chr20:14261071-14261082 chr20:14261072-14261081 chr20:14261072-14261081 chr20:14261072-14261081 chr20:14261072-14261081 chr20:14261070-14261081
15	CEBPB	chr20:14169158-14169396	HepG2	liver:	n/a	chr20:14169264-14169275 chr20:14169263-14169276
16	CEBPB	chr20:14265192-14265481	Hela-S3	cervix:	n/a	chr20:14265328-14265341 chr20:14265328-14265341 chr20:14265328-14265339 chr20:14265330-14265341
17	CEBPB	chr20:14195407-14195452	Hela-S3	cervix:	n/a	chr20:14195430-14195441
18	CEBPB	chr20:14195398-14195596	HepG2	liver:	n/a	chr20:14195430-14195441
19	CEBPB	chr20:14105734-14106009	HepG2	liver:	n/a	chr20:14105876-14105887
20	CEBPB	chr20:14135021-14135123	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr20:14261036-14261171	H1-hESC	embryonic stem cell:	n/a	chr20:14261071-14261082 chr20:14261072-14261081 chr20:14261072-14261081 chr20:14261072-14261081 chr20:14261072-14261081 chr20:14261070-14261081
22	CEBPB	chr20:14123644-14124346	Hela-S3	cervix:	n/a	chr20:14124065-14124076 chr20:14123684-14123701
23	CEBPB	chr20:14260900-14261263	HepG2	liver:	n/a	chr20:14261071-14261082 chr20:14261072-14261081 chr20:14261072-14261081 chr20:14261072-14261081 chr20:14261072-14261081 chr20:14261070-14261081
24	CEBPB	chr20:14226059-14226423	HepG2	liver:	n/a	chr20:14226239-14226252 chr20:14226240-14226251 chr20:14226238-14226255
25	CEBPB	chr20:14200842-14201173	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr20:14116246-14116247	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr20:14131921-14131987	Hela-S3	cervix:	n/a	chr20:14131944-14131955
28	CEBPB	chr20:14226048-14226432	IMR90	lung:	n/a	chr20:14226239-14226252 chr20:14226240-14226251 chr20:14226238-14226255
29	CEBPB	chr20:14269620-14269888	IMR90	lung:	n/a	n/a
30	CEBPB	chr20:14171633-14171969	MCF-7	breast:	n/a	chr20:14171773-14171784
31	CEBPB	chr20:14216006-14216480	IMR90	lung:	n/a	n/a
32	CEBPB	chr20:14123882-14124277	IMR90	lung:	n/a	chr20:14124065-14124076
33	CEBPB	chr20:14175443-14175618	HepG2	liver:	n/a	n/a
34	CEBPB	chr20:14182865-14183115	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr20:14215321-14215673	IMR90	lung:	n/a	n/a
36	CEBPB	chr20:14163996-14164193	HepG2	liver:	n/a	chr20:14164119-14164130
37	CEBPB	chr20:14221682-14221789	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr20:14226075-14226412	Hela-S3	cervix:	n/a	chr20:14226239-14226252 chr20:14226240-14226251 chr20:14226238-14226255
39	CEBPB	chr20:14108415-14108686	HepG2	liver:	n/a	chr20:14108538-14108549
40	CEBPB	chr20:14131803-14132014	A549	lung:	n/a	chr20:14131944-14131955
41	CEBPB	chr20:14171624-14171932	HepG2	liver:	n/a	chr20:14171773-14171784
42	CEBPB	chr20:14108515-14108599	Hela-S3	cervix:	n/a	chr20:14108538-14108549
43	CEBPB	chr20:14228633-14228706	HepG2	liver:	n/a	chr20:14228671-14228682
44	CEBPB	chr20:14226125-14226338	H1-hESC	embryonic stem cell:	n/a	chr20:14226239-14226252 chr20:14226240-14226251 chr20:14226238-14226255
45	CEBPB	chr20:14215347-14215636	A549	lung:	n/a	n/a
46	CEBPB	chr20:14108364-14108626	A549	lung:	n/a	chr20:14108538-14108549
47	CEBPB	chr20:14269670-14269797	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr20:14116161-14116451	A549	lung:	n/a	chr20:14116272-14116283
49	CEBPB	chr20:14226064-14226419	A549	lung:	n/a	chr20:14226239-14226252 chr20:14226240-14226251 chr20:14226238-14226255
50	CEBPB	chr20:14216017-14216508	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:14129066..14131439-chr20:14132476..14135215,3	MCF-7	breast:
2	chr20:14103143..14106631-chr20:14107434..14111126,4	MCF-7	breast:
3	chr20:14122456..14123347-chr20:14170219..14170897,2	MCF-7	breast:
4	chr20:14174059..14174890-chr20:16741525..16742040,2	MCF-7	breast:
5	chr20:14170212..14170967-chr20:14245501..14246136,3	MCF-7	breast:
6	chr20:14199868..14203458-chr20:14204053..14207149,3	MCF-7	breast:
7	chr20:14122456..14123347-chr20:14170219..14170897,2	MCF-7	breast:
8	chr20:14199868..14203458-chr20:14204053..14207149,3	MCF-7	breast:
9	chr20:14173827..14175153-chr20:14245201..14246183,6	MCF-7	breast:
10	chr20:14246857..14249567-chr20:14268278..14270770,2	K562	blood:
11	chr20:14170212..14170967-chr20:14245501..14246136,3	MCF-7	breast:
12	chr20:14173827..14175153-chr20:14245201..14246183,6	MCF-7	breast:
13	chr20:14175439..14177996-chr3:730394..733241,2	MCF-7	breast:
14	chr20:14129066..14131439-chr20:14132476..14135215,3	MCF-7	breast:
15	chr20:14122826..14123367-chr20:15689798..15690310,2	MCF-7	breast:
16	chr20:14246857..14249567-chr20:14268278..14270770,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C20orf7-2	chr20:14203687-14203976	NONHSAT078711

Variant related genes	Relation type
RN7SL864P	TF binding region
AIMP1P1	TF binding region
ENSG00000234187	chromatin interactions

Extended variants
information (count: 4105 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:4105 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187945909	chr20:14097811-14097812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75428901	chr20:14097821-14097822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541666507	chr20:14097822-14097823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377727487	chr20:14097934-14097935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs3747928	chr20:14098029-14098030	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs574733184	chr20:14098035-14098036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561946407	chr20:14098139-14098140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543607912	chr20:14098145-14098146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563471351	chr20:14098190-14098191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4814282	chr20:14098200-14098201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532602730	chr20:14098207-14098208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545898634	chr20:14098232-14098233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527635485	chr20:14098399-14098400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149612743	chr20:14098504-14098505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528385118	chr20:14098507-14098508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548540640	chr20:14098641-14098642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568357950	chr20:14098648-14098649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs59435348	chr20:14098724-14098725	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs550781006	chr20:14098744-14098745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377455010	chr20:14098758-14098759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191322496	chr20:14098766-14098767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539494390	chr20:14098787-14098788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183468418	chr20:14098800-14098801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6042540	chr20:14098801-14098802	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs566422653	chr20:14098815-14098816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535073827	chr20:14098819-14098820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564788054	chr20:14098845-14098846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533379638	chr20:14098869-14098870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79522240	chr20:14098878-14098879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574772577	chr20:14098891-14098892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189384169	chr20:14098955-14098956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6135067	chr20:14103046-14103047	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs185047705	chr20:14103048-14103049	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs534659511	chr20:14103145-14103146	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs554694424	chr20:14103147-14103148	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs574530003	chr20:14103169-14103170	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs543418261	chr20:14103195-14103196	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs371128809	chr20:14103214-14103215	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs556610612	chr20:14103233-14103234	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs143894126	chr20:14103273-14103274	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs576641114	chr20:14103274-14103275	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs545292877	chr20:14103286-14103287	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs543753179	chr20:14103287-14103288	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs375580029	chr20:14103418-14103419	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs542345086	chr20:14103420-14103421	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs565429637	chr20:14103463-14103464	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs140742740	chr20:14103507-14103508	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs541169403	chr20:14103509-14103510	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs150082688	chr20:14103513-14103514	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs138499968	chr20:14103514-14103515	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	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
Schizophrenia	23813976	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14094800-14098000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr20:14098000-14099000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr20:14098400-14099000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr20:14107600-14108200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr20:14107800-14108800	Enhancers	Dnd41	blood
6	chr20:14119800-14120000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr20:14120000-14123600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr20:14120800-14121200	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr20:14121200-14121600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr20:14121600-14121800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr20:14121800-14123000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr20:14122600-14123400	Enhancers	Fetal Intestine Small	intestine
13	chr20:14122600-14124000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr20:14122600-14124400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr20:14122800-14123200	Enhancers	Brain Anterior Caudate	brain
16	chr20:14122800-14124200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr20:14122800-14124600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr20:14122800-14124800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr20:14123000-14123200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr20:14123000-14123200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr20:14123000-14123200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr20:14123000-14123200	Enhancers	Brain Cingulate Gyrus	brain
23	chr20:14123000-14123200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr20:14123000-14123200	Enhancers	Fetal Intestine Large	intestine
25	chr20:14123000-14123200	Enhancers	Gastric	stomach
26	chr20:14123000-14123200	Enhancers	Stomach Smooth Muscle	stomach
27	chr20:14123000-14123400	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr20:14123000-14124000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr20:14123000-14124200	Enhancers	Stomach Mucosa	stomach
30	chr20:14123000-14124400	Enhancers	Hela-S3	cervix
31	chr20:14123200-14123800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr20:14123200-14124200	Weak transcription	Fetal Intestine Large	intestine
33	chr20:14123200-14124400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr20:14123200-14125400	Weak transcription	Gastric	stomach
35	chr20:14123200-14129600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr20:14123400-14123800	Weak transcription	Fetal Intestine Small	intestine
37	chr20:14123400-14124400	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr20:14123600-14124600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr20:14123600-14124600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr20:14123600-14126400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr20:14123800-14124400	Enhancers	HMEC	breast
42	chr20:14123800-14125600	Enhancers	Fetal Intestine Small	intestine
43	chr20:14124000-14124200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr20:14124000-14124400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr20:14124000-14124400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr20:14124000-14124400	Enhancers	HSMMtube	muscle
47	chr20:14124200-14125600	Enhancers	Fetal Intestine Large	intestine
48	chr20:14124400-14128400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr20:14125400-14125600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr20:14125400-14125600	Enhancers	Gastric	stomach

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