Variant report

Variant	nsv178798
Chromosome Location	chr20:16205033-16214680
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	FOS	chr20:16210408-16210626	MCF10A-Er-Src	breast:	n/a	n/a
2	MAX	chr20:16209426-16209738	K562	blood:	n/a	chr20:16209570-16209579 chr20:16209571-16209580 chr20:16209569-16209582 chr20:16209571-16209580 chr20:16209569-16209582 chr20:16209570-16209581 chr20:16209566-16209585 chr20:16209571-16209580
3	MAX	chr20:16209365-16209708	K562	blood:	n/a	chr20:16209570-16209579 chr20:16209571-16209580 chr20:16209569-16209582 chr20:16209571-16209580 chr20:16209569-16209582 chr20:16209570-16209581 chr20:16209566-16209585 chr20:16209571-16209580
4	MAZ	chr20:16209612-16209757	K562	blood:	n/a	n/a
5	MYC	chr20:16205511-16205582	MCF10A-Er-Src	breast:	n/a	n/a
6	NFIC	chr20:16206693-16207000	ECC-1	luminal epithelium:	n/a	n/a
7	NR2F2	chr20:16207180-16207581	K562	blood:	n/a	n/a
8	POLR2A	chr20:16209481-16209598	K562	blood:	n/a	n/a
9	STAT3	chr20:16210221-16210245	MCF10A-Er-Src	breast:	n/a	chr20:16210225-16210236
10	STAT3	chr20:16210152-16210295	MCF10A-Er-Src	breast:	n/a	chr20:16210225-16210236
11	TEAD4	chr20:16206778-16207188	ECC-1	luminal epithelium:	n/a	n/a
12	USF1	chr20:16209405-16209711	K562	blood:	n/a	n/a
13	USF1	chr20:16212913-16213157	H1-hESC	embryonic stem cell:	n/a	n/a
14	USF1	chr20:16209319-16209732	K562	blood:	n/a	n/a
15	USF2	chr20:16209423-16209722	K562	blood:	n/a	n/a
16	USF2	chr20:16209509-16209681	GM12878	blood:	n/a	n/a
17	YY1	chr20:16209338-16209617	K562	blood:	n/a	chr20:16209512-16209522 chr20:16209458-16209467 chr20:16209500-16209522 chr20:16209456-16209467
18	YY1	chr20:16209332-16209627	K562	blood:	n/a	chr20:16209512-16209522 chr20:16209458-16209467 chr20:16209500-16209522 chr20:16209456-16209467

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:16206255-16206305	NT2-D1	testis:	n/a
2	chr20:16206255-16206305	NB4	blood:	n/a
3	chr20:16206255-16206305	HUVEC	blood vessel:	n/a
4	chr20:16206255-16206305	Hela-S3	cervix:	n/a
5	chr20:16206255-16206305	AoSMC	blood vessel:	n/a
6	chr20:16206255-16206305	SK-N-MC	brain:	n/a
7	chr20:16206255-16206305	HIPEpiC	eye:	n/a
8	chr20:16206255-16206305	BJ	skin:	n/a
9	chr20:16206255-16206305	SK-N-SH_RA	brain:	n/a
10	chr20:16206255-16206305	HCM	heart:	n/a
11	chr20:16206255-16206305	HCT-116	colon:	n/a
12	chr20:16206255-16206305	MCF10A-Er-Src	breast:	n/a
13	chr20:16206255-16206305	GM06990	blood:	n/a
14	chr20:16206255-16206305	HEK293	kidney:	embryo
15	chr20:16206255-16206305	U87	brain:	n/a
16	chr20:16206255-16206305	HRCEpiC	kidney:	n/a
17	chr20:16206255-16206305	AG09319	gingival:	n/a
18	chr20:16206255-16206305	BE2_C	brain:	n/a
19	chr20:16206255-16206305	HCF	heart:	n/a
20	chr20:16206255-16206305	HRE	kidney:	n/a
21	chr20:16206255-16206305	HNPCEpiC	eye:	n/a
22	chr20:16206255-16206305	CMK	blood:	n/a
23	chr20:16206255-16206305	MCF-7	breast:	n/a
24	chr20:16206255-16206305	HMEC	breast:	n/a
25	chr20:16206255-16206305	AG10803	skin:	n/a
26	chr20:16206255-16206305	HPAEpiC	pulmonary alveolar:	n/a
27	chr20:16206255-16206305	ovcar-3	ovarian:	n/a
28	chr20:16206255-16206305	A549	lung:	n/a
29	chr20:16206255-16206305	GM19239	blood:	n/a
30	chr20:16206255-16206305	ProgFib	skin:	n/a
31	chr20:16206255-16206305	HL-60	blood:	n/a
32	chr20:16206255-16206305	HCPEpiC	choroid plexus:	n/a
33	chr20:16206255-16206305	Caco-2	colon:	n/a
34	chr20:16206255-16206305	SK-N-SH	brain:	n/a
35	chr20:16206255-16206305	PrEC	prostate:	n/a
36	chr20:16206255-16206305	NH-A	brain:	n/a
37	chr20:16206255-16206305	PANC-1	pancreas:	n/a
38	chr20:16206255-16206305	Jurkat	blood:	n/a
39	chr20:16206255-16206305	K562	blood:	n/a
40	chr20:16206255-16206305	SAEC	small airway:	n/a
41	chr20:16206255-16206305	LNCaP	prostate:	n/a
42	chr20:16206255-16206305	ECC-1	luminal epithelium:	n/a
43	chr20:16206255-16206305	HEEpiC	esophagus:	n/a
44	chr20:16206255-16206305	HepG2	liver:	n/a
45	chr20:16206255-16206305	AG09309	skin:	n/a
46	chr20:16206255-16206305	AG04449	skin:	fetal
47	chr20:16206255-16206305	GM12892	blood:	n/a
48	chr20:16206255-16206305	IMR90	lung:	fetal
49	chr20:16206255-16206305	RPTEC	kidney:	n/a
50	chr20:16206255-16206305	T-47D	breast:	n/a

Variant related genes	Relation type
PPIAP17	TF binding region
PPIAP17	CpG island

Extended variants
information (count: 434 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538924856	chr20:16205119-16205120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140105162	chr20:16205121-16205122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370318794	chr20:16205124-16205125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557403017	chr20:16205134-16205135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374219309	chr20:16205140-16205141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575558761	chr20:16205145-16205146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183038920	chr20:16205155-16205156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6034414	chr20:16205156-16205157	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs6135706	chr20:16205237-16205238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188467303	chr20:16205314-16205315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551784426	chr20:16205384-16205385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115628419	chr20:16205397-16205398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6105551	chr20:16205412-16205413	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533192427	chr20:16205426-16205427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551687367	chr20:16205434-16205435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192894779	chr20:16205446-16205447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34776290	chr20:16205472-16205473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530497923	chr20:16205494-16205495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs59395141	chr20:16205516-16205517	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs115745272	chr20:16205560-16205561	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs534405071	chr20:16205578-16205579	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs546316730	chr20:16205595-16205596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567707445	chr20:16205606-16205607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184686492	chr20:16205617-16205618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187832157	chr20:16205628-16205629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35263689	chr20:16205649-16205650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142127306	chr20:16205687-16205688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146169002	chr20:16205837-16205838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs59280013	chr20:16205877-16205878	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs536847621	chr20:16205879-16205880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77993008	chr20:16205910-16205911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192603314	chr20:16205916-16205917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74813348	chr20:16205921-16205922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559130685	chr20:16206016-16206017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183686100	chr20:16206020-16206021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544899210	chr20:16206057-16206058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189236037	chr20:16206058-16206059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530724718	chr20:16206091-16206092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373237873	chr20:16206116-16206117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181129927	chr20:16206138-16206139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568812323	chr20:16206156-16206157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73104255	chr20:16206166-16206167	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs528108486	chr20:16206175-16206176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76831363	chr20:16206182-16206183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147843161	chr20:16206227-16206228	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113799840	chr20:16206232-16206233	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146924920	chr20:16206256-16206257	ZNF genes & repeats Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs6514663	chr20:16206277-16206278	ZNF genes & repeats Weak transcription Enhancers	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs67375692	chr20:16206296-16206297	ZNF genes & repeats Weak transcription Enhancers	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs555269030	chr20:16206297-16206298	ZNF genes & repeats Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16196200-16215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr20:16205000-16205200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr20:16205200-16205800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr20:16205200-16205800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr20:16205800-16206200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr20:16205800-16206600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr20:16206000-16206600	Enhancers	Adipose Nuclei	Adipose
8	chr20:16206200-16206600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr20:16206200-16207000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr20:16207000-16209200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr20:16209200-16209400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr20:16209200-16209800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr20:16209200-16209800	Active TSS	K562	blood
14	chr20:16209800-16215400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr20:16213000-16216600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr20:16213400-16213800	Enhancers	Brain Germinal Matrix	brain
17	chr20:16213800-16214200	Weak transcription	Brain Germinal Matrix	brain
18	chr20:16214200-16214400	Enhancers	Brain Germinal Matrix	brain
19	chr20:16214400-16216200	Weak transcription	Brain Germinal Matrix	brain

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