Variant report

Variant	nsv1061705
Chromosome Location	chr20:14330029-14430604
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	ATF3	chr20:14386986-14387654	A549	lung:	n/a	n/a
2	ATF3	chr20:14386976-14387666	A549	lung:	n/a	n/a
3	BATF	chr20:14382155-14382397	GM12878	blood:	n/a	chr20:14382255-14382266
4	BCL11A	chr20:14382168-14382440	GM12878	blood:	n/a	n/a
5	BCL11A	chr20:14382174-14382393	GM12878	blood:	n/a	n/a
6	BCL3	chr20:14386930-14387690	A549	lung:	n/a	n/a
7	BCL3	chr20:14386841-14387786	A549	lung:	n/a	n/a
8	BHLHE40	chr20:14381953-14382520	GM12878	blood:	n/a	n/a
9	BHLHE40	chr20:14383566-14383621	GM12878	blood:	n/a	n/a
10	BHLHE40	chr20:14412360-14412447	GM12878	blood:	n/a	n/a
11	BHLHE40	chr20:14413607-14413707	GM12878	blood:	n/a	n/a
12	BRCA1	chr20:14395126-14395139	GM12878	blood:	n/a	n/a
13	CEBPB	chr20:14429979-14430347	IMR90	lung:	n/a	chr20:14430150-14430161
14	CEBPB	chr20:14414522-14414713	HepG2	liver:	n/a	chr20:14414568-14414579
15	CEBPB	chr20:14429993-14430289	A549	lung:	n/a	chr20:14430150-14430161
16	CEBPB	chr20:14430047-14430271	Hela-S3	cervix:	n/a	chr20:14430150-14430161
17	CEBPB	chr20:14339388-14339598	HepG2	liver:	n/a	n/a
18	CEBPB	chr20:14342555-14342693	A549	lung:	n/a	chr20:14342630-14342641 chr20:14342628-14342641
19	CEBPB	chr20:14342464-14342775	Hela-S3	cervix:	n/a	chr20:14342630-14342641 chr20:14342628-14342641
20	CEBPB	chr20:14415089-14415337	MCF-7	breast:	n/a	n/a
21	CEBPB	chr20:14424834-14425062	Hela-S3	cervix:	n/a	chr20:14424934-14424945
22	CEBPB	chr20:14421873-14422215	HepG2	liver:	n/a	chr20:14422047-14422058
23	CEBPB	chr20:14344993-14345303	HepG2	liver:	n/a	chr20:14345160-14345171
24	CEBPB	chr20:14430041-14430324	A549	lung:	n/a	chr20:14430150-14430161
25	CEBPB	chr20:14424801-14425080	A549	lung:	n/a	chr20:14424934-14424945
26	CEBPB	chr20:14425937-14426328	IMR90	lung:	n/a	n/a
27	CEBPB	chr20:14415080-14415385	A549	lung:	n/a	n/a
28	CEBPB	chr20:14415032-14415438	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr20:14405226-14405272	A549	lung:	n/a	chr20:14405256-14405267
30	CEBPB	chr20:14421894-14422203	A549	lung:	n/a	chr20:14422047-14422058
31	CEBPB	chr20:14386991-14387603	A549	lung:	n/a	n/a
32	CEBPB	chr20:14372151-14372272	HepG2	liver:	n/a	chr20:14372182-14372193
33	CEBPB	chr20:14430046-14430292	HepG2	liver:	n/a	chr20:14430150-14430161
34	CEBPB	chr20:14365408-14365828	ECC-1	luminal epithelium:	n/a	n/a
35	CEBPB	chr20:14405108-14405408	HepG2	liver:	n/a	chr20:14405256-14405267
36	CEBPB	chr20:14387170-14387554	A549	lung:	n/a	n/a
37	CEBPB	chr20:14421855-14422247	IMR90	lung:	n/a	chr20:14422047-14422058
38	CEBPB	chr20:14386912-14387794	A549	lung:	n/a	n/a
39	CEBPB	chr20:14424786-14425069	IMR90	lung:	n/a	chr20:14424934-14424945
40	CEBPB	chr20:14415059-14415419	IMR90	lung:	n/a	n/a
41	CEBPB	chr20:14373683-14373999	HepG2	liver:	n/a	chr20:14373829-14373840
42	CEBPB	chr20:14424769-14425107	HepG2	liver:	n/a	chr20:14424934-14424945
43	CEBPB	chr20:14360151-14360204	HepG2	liver:	n/a	n/a
44	CHD2	chr20:14367530-14367681	GM12878	blood:	n/a	n/a
45	CHD2	chr20:14382151-14382503	GM12878	blood:	n/a	n/a
46	CHD2	chr20:14415076-14415401	Hela-S3	cervix:	n/a	n/a
47	CREB1	chr20:14387236-14387540	A549	lung:	n/a	n/a
48	CTCF	chr20:14369902-14370020	Kidney_OC	kidney:	n/a	n/a
49	CTCF	chr20:14412450-14412652	GM12878	blood:	n/a	n/a
50	CTCF	chr20:14413580-14413730	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:14349761..14351392-chr20:14353398..14355373,2	K562	blood:
2	chr20:14392722..14394222-chr20:14395947..14398400,2	MCF-7	breast:
3	chr20:14419711..14421377-chr20:14423386..14425403,2	MCF-7	breast:
4	chr20:14335576..14337791-chr20:15315333..15317078,2	MCF-7	breast:
5	chr20:14392722..14394222-chr20:14395947..14398400,2	MCF-7	breast:
6	chr20:14349761..14351392-chr20:14353398..14355373,2	K562	blood:
7	chr20:14419711..14421377-chr20:14423386..14425403,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-228P	TF binding region

Extended variants
information (count: 2970 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2970 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138224574	chr20:14336474-14336475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558530057	chr20:14336523-14336524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2145561	chr20:14336584-14336585	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs145044664	chr20:14336585-14336586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554443545	chr20:14336615-14336616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574606132	chr20:14336651-14336652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138698704	chr20:14336661-14336662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563463737	chr20:14336670-14336671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532131360	chr20:14336742-14336743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545868585	chr20:14336753-14336754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559430130	chr20:14336784-14336785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs204623	chr20:14336829-14336830	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs185527445	chr20:14336891-14336892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190055111	chr20:14336939-14336940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs193056058	chr20:14336940-14336941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550126578	chr20:14336964-14336965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375217817	chr20:14336993-14336994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35140213	chr20:14337017-14337018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554368752	chr20:14337033-14337034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570183060	chr20:14337035-14337036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538764066	chr20:14337063-14337064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149290186	chr20:14337067-14337068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565784803	chr20:14337096-14337097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534679553	chr20:14337102-14337103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370930772	chr20:14337144-14337145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71190132	chr20:14337167-14337168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184255074	chr20:14337207-14337208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569364219	chr20:14337236-14337237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs204624	chr20:14337249-14337250	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs537324884	chr20:14337433-14337434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556881999	chr20:14337466-14337467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370347097	chr20:14337468-14337469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs8120919	chr20:14337517-14337518	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs4640454	chr20:14337539-14337540	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs117078083	chr20:14337546-14337547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543926122	chr20:14337576-14337577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572909727	chr20:14337634-14337635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35216174	chr20:14337713-14337714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541860132	chr20:14337799-14337800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148049441	chr20:14337812-14337813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188677563	chr20:14337841-14337842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550406875	chr20:14337856-14337857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533820089	chr20:14337884-14337885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181155036	chr20:14337913-14337914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376780809	chr20:14337979-14337980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141630179	chr20:14338024-14338025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185244504	chr20:14338038-14338039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552284217	chr20:14338043-14338044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147755023	chr20:14338048-14338049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534760914	chr20:14338069-14338070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:405 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14336400-14336800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:14336400-14338800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr20:14336600-14337000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr20:14337000-14341000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr20:14338800-14341000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr20:14339400-14339800	Enhancers	Liver	Liver
7	chr20:14339800-14341600	Weak transcription	Liver	Liver
8	chr20:14341000-14341400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr20:14341000-14341400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr20:14341000-14341400	Enhancers	NHEK	skin
11	chr20:14341000-14341600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr20:14341000-14341800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr20:14341000-14342600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr20:14341200-14341800	Enhancers	HSMMtube	muscle
15	chr20:14341200-14343200	Enhancers	Duodenum Mucosa	Duodenum
16	chr20:14341600-14342000	Enhancers	Fetal Intestine Small	intestine
17	chr20:14341600-14342200	Enhancers	Liver	Liver
18	chr20:14341800-14342200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr20:14342000-14342400	Weak transcription	Fetal Intestine Small	intestine
20	chr20:14342000-14343200	Enhancers	Hela-S3	cervix
21	chr20:14342200-14342800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr20:14342200-14343000	Flanking Active TSS	Liver	Liver
23	chr20:14342200-14343400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr20:14342400-14342600	Enhancers	Fetal Intestine Small	intestine
25	chr20:14342600-14343000	Weak transcription	Fetal Intestine Small	intestine
26	chr20:14343000-14343200	Enhancers	Liver	Liver
27	chr20:14343000-14343400	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr20:14344000-14344600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr20:14344600-14346400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr20:14349600-14349800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr20:14349800-14350000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr20:14349800-14350000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr20:14350000-14351000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr20:14350000-14351000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr20:14350000-14351200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr20:14350000-14351600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr20:14350200-14352200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr20:14350800-14351600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr20:14351000-14351400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr20:14351000-14351600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr20:14351000-14351600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr20:14351000-14351600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr20:14351000-14352000	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr20:14351200-14351600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr20:14351400-14353400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr20:14351600-14354200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr20:14351600-14355200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr20:14351600-14356000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr20:14351600-14356200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr20:14351600-14359000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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