Variant report

Variant	nsv915892
Chromosome Location	chr20:29938035-29958295
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	CEBPB	chr20:29939648-29939720	HepG2	liver:	n/a	chr20:29939667-29939678
2	CHD2	chr20:29952144-29952438	HepG2	liver:	n/a	n/a
3	CHD2	chr20:29952083-29952448	K562	blood:	n/a	n/a
4	CTCF	chr20:29946320-29946470	HRPEpiC	eye:	n/a	n/a
5	CTCF	chr20:29941100-29941250	HepG2	liver:	n/a	n/a
6	CTCF	chr20:29952577-29952679	Pancreas_OC	pancreas:	n/a	n/a
7	FOS	chr20:29941903-29941906	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr20:29941875-29941940	MCF10A-Er-Src	breast:	n/a	chr20:29941912-29941919 chr20:29941907-29941919 chr20:29941909-29941916 chr20:29941908-29941917 chr20:29941909-29941917
9	FOS	chr20:29943860-29944016	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr20:29943937-29944054	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr20:29950857-29950867	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr20:29943936-29944069	MCF10A-Er-Src	breast:	n/a	n/a
13	FOSL2	chr20:29941806-29942004	HepG2	liver:	n/a	chr20:29941912-29941919 chr20:29941907-29941919 chr20:29941909-29941916 chr20:29941908-29941917 chr20:29941909-29941917
14	GATA3	chr20:29943752-29944208	SK-N-SH	brain:	n/a	n/a
15	GATA3	chr20:29943717-29944172	SK-N-SH	brain:	n/a	n/a
16	JUN	chr20:29956156-29956180	K562	blood:	n/a	n/a
17	JUND	chr20:29941750-29942037	HepG2	liver:	n/a	chr20:29941907-29941918 chr20:29941912-29941919 chr20:29941907-29941919 chr20:29941909-29941916 chr20:29941908-29941917 chr20:29941909-29941917
18	JUND	chr20:29941876-29941991	K562	blood:	n/a	chr20:29941907-29941918 chr20:29941912-29941919 chr20:29941907-29941919 chr20:29941909-29941916 chr20:29941908-29941917 chr20:29941909-29941917
19	JUND	chr20:29950719-29951041	HepG2	liver:	n/a	chr20:29950893-29950904
20	MAFF	chr20:29951178-29951446	HepG2	liver:	n/a	chr20:29951299-29951317
21	MAFK	chr20:29953418-29953554	HepG2	liver:	n/a	n/a
22	MAFK	chr20:29951212-29951409	IMR90	lung:	n/a	chr20:29951300-29951315
23	MAFK	chr20:29951175-29951434	HepG2	liver:	n/a	chr20:29951300-29951315
24	MAFK	chr20:29951153-29951462	HepG2	liver:	n/a	chr20:29951300-29951315
25	MAFK	chr20:29942790-29942865	HepG2	liver:	n/a	n/a
26	POLR2A	chr20:29943956-29943997	ProgFib	skin:	n/a	n/a
27	POLR2A	chr20:29954412-29954446	A549	lung:	n/a	n/a
28	POLR2A	chr20:29952152-29952300	Gliobla	brain:	n/a	n/a
29	ZBTB33	chr20:29952039-29952377	K562	blood:	n/a	chr20:29952249-29952264 chr20:29952268-29952283
30	ZBTB33	chr20:29952151-29952392	HepG2	liver:	n/a	chr20:29952249-29952264 chr20:29952268-29952283
31	ZBTB33	chr20:29952142-29952412	K562	blood:	n/a	chr20:29952249-29952264 chr20:29952268-29952283
32	ZBTB33	chr20:29952148-29952347	HepG2	liver:	n/a	chr20:29952249-29952264 chr20:29952268-29952283

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:29956028-29956078	NHBE	bronchial:	n/a
2	chr20:29956062-29956112	Jurkat	blood:	n/a
3	chr20:29956585-29956635	RPTEC	kidney:	n/a
4	chr20:29956028-29956078	GM12878	blood:	n/a
5	chr20:29956585-29956635	AG10803	skin:	n/a
6	chr20:29956585-29956635	SK-N-SH_RA	brain:	n/a
7	chr20:29956028-29956078	HRPEpiC	eye:	n/a
8	chr20:29956330-29956380	SK-N-SH	brain:	n/a
9	chr20:29955259-29955309	HUVEC	blood vessel:	n/a
10	chr20:29956028-29956078	CMK	blood:	n/a
11	chr20:29956062-29956112	AG04450	lung:	fetal
12	chr20:29956028-29956078	NB4	blood:	n/a
13	chr20:29956330-29956380	HRPEpiC	eye:	n/a
14	chr20:29956330-29956380	AG04449	skin:	fetal
15	chr20:29956028-29956078	HIPEpiC	eye:	n/a
16	chr20:29956330-29956380	GM12892	blood:	n/a
17	chr20:29955259-29955309	SK-N-MC	brain:	n/a
18	chr20:29956585-29956635	ECC-1	luminal epithelium:	n/a
19	chr20:29956028-29956078	NT2-D1	testis:	n/a
20	chr20:29955259-29955309	GM06990	blood:	n/a
21	chr20:29956330-29956380	RPTEC	kidney:	n/a
22	chr20:29956585-29956635	T-47D	breast:	n/a
23	chr20:29956585-29956635	IMR90	lung:	fetal
24	chr20:29956062-29956112	BJ	skin:	n/a
25	chr20:29955259-29955309	AG09309	skin:	n/a
26	chr20:29956330-29956380	AG09319	gingival:	n/a
27	chr20:29956062-29956112	AG10803	skin:	n/a
28	chr20:29956585-29956635	HEK293	kidney:	embryo
29	chr20:29956585-29956635	Hela-S3	cervix:	n/a
30	chr20:29956062-29956112	NH-A	brain:	n/a
31	chr20:29956062-29956112	AoSMC	blood vessel:	n/a
32	chr20:29956028-29956078	HCPEpiC	choroid plexus:	n/a
33	chr20:29955259-29955309	HCT-116	colon:	n/a
34	chr20:29955259-29955309	NHBE	bronchial:	n/a
35	chr20:29956585-29956635	SK-N-SH	brain:	n/a
36	chr20:29956062-29956112	NB4	blood:	n/a
37	chr20:29956062-29956112	BE2_C	brain:	n/a
38	chr20:29956330-29956380	ProgFib	skin:	n/a
39	chr20:29956330-29956380	Caco-2	colon:	n/a
40	chr20:29956330-29956380	AoSMC	blood vessel:	n/a
41	chr20:29956028-29956078	MCF10A-Er-Src	breast:	n/a
42	chr20:29956585-29956635	K562	blood:	n/a
43	chr20:29956028-29956078	PFSK-1	brain:	n/a
44	chr20:29956585-29956635	Hepatocyte	liver:	n/a
45	chr20:29956062-29956112	AG09319	gingival:	n/a
46	chr20:29956585-29956635	BE2_C	brain:	n/a
47	chr20:29956330-29956380	HEK293	kidney:	embryo
48	chr20:29956330-29956380	AG04450	lung:	fetal
49	chr20:29956330-29956380	HUVEC	blood vessel:	n/a
50	chr20:29955259-29955309	MCF10A-Er-Src	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:29940769..29942399-chr20:29945457..29948097,2	MCF-7	breast:
2	chr20:29955069..29955719-chr20:29963915..29964847,2	MCF-7	breast:
3	chr20:29940769..29942399-chr20:29945457..29948097,2	MCF-7	breast:

Variant related genes	Relation type
DEFB118	TF binding region
RNA5SP480	TF binding region
DEFB117	TF binding region
DEFB118	CpG island
RNA5SP480	CpG island
DEFB117	CpG island
ENSG00000212134	chromatin interactions

Extended variants
information (count: 114 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552479423	chr20:29939717-29939718	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs151262964	chr20:29941132-29941133	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs562788400	chr20:29941143-29941144	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs374762163	chr20:29941168-29941169	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs576551923	chr20:29941202-29941203	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs528338954	chr20:29941222-29941223	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs542316717	chr20:29941231-29941232	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs570906602	chr20:29941768-29941769	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs6087944	chr20:29941769-29941770	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs374150675	chr20:29941792-29941793	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs547883844	chr20:29941817-29941818	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs150252143	chr20:29941896-29941897	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs576581220	chr20:29941930-29941931	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs116238316	chr20:29941936-29941937	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs138901628	chr20:29941938-29941939	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs527634200	chr20:29941968-29941969	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs148970787	chr20:29941975-29941976	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs6087400	chr20:29942817-29942818	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs114136834	chr20:29942859-29942860	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs554706550	chr20:29943804-29943805	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs372756664	chr20:29943936-29943937	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs188164117	chr20:29943979-29943980	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs560765510	chr20:29943994-29943995	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs563029208	chr20:29944005-29944006	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs141798158	chr20:29944075-29944076	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs191428797	chr20:29944083-29944084	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs150579317	chr20:29944116-29944117	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs575224459	chr20:29944132-29944133	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs545480387	chr20:29944155-29944156	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs552029458	chr20:29944178-29944179	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs183952605	chr20:29944185-29944186	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs376984633	chr20:29944200-29944201	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs537174854	chr20:29946368-29946369	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs11907249	chr20:29946380-29946381	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs372417030	chr20:29946387-29946388	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs569350739	chr20:29946396-29946397	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs533409816	chr20:29946404-29946405	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs530194650	chr20:29946407-29946408	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs546694713	chr20:29946453-29946454	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs192710101	chr20:29946457-29946458	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs184585837	chr20:29951434-29951435	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs558443818	chr20:29951445-29951446	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs563659168	chr20:29952073-29952074	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs186974741	chr20:29952074-29952075	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs571761008	chr20:29952182-29952183	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs575341014	chr20:29952195-29952196	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs537947910	chr20:29952247-29952248	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs117430531	chr20:29952274-29952275	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs146613821	chr20:29952281-29952282	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs540262193	chr20:29952288-29952289	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	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
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21806811	CNVD
Melanoma	21693616	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Soft tissue tumor	16732325	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	22860045	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29956200-29956800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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