Variant report

Variant	nsv3344
Chromosome Location	chr20:29904206-29949950
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	chr20:29929475-29929483	K562	blood:	n/a	n/a
2	CEBPB	chr20:29930995-29931186	HepG2	liver:	n/a	chr20:29931087-29931098
3	CEBPB	chr20:29929046-29929296	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr20:29926865-29926997	HepG2	liver:	n/a	n/a
5	CEBPB	chr20:29939648-29939720	HepG2	liver:	n/a	chr20:29939667-29939678
6	CTCF	chr20:29925885-29925940	GM13976	blood:	n/a	n/a
7	CTCF	chr20:29922302-29922372	GM20000	blood:	n/a	n/a
8	CTCF	chr20:29929366-29929429	LNCaP	prostate:	n/a	n/a
9	CTCF	chr20:29921153-29921243	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr20:29935260-29935410	Caco-2	colon:	n/a	chr20:29935293-29935311
11	CTCF	chr20:29941100-29941250	HepG2	liver:	n/a	n/a
12	CTCF	chr20:29946320-29946470	HRPEpiC	eye:	n/a	n/a
13	CTCF	chr20:29935380-29935530	GM12864	blood:	n/a	n/a
14	CTCF	chr20:29912240-29912390	HepG2	liver:	n/a	n/a
15	EP300	chr20:29929365-29929600	K562	blood:	n/a	n/a
16	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
17	FOS	chr20:29943936-29944069	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr20:29943937-29944054	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr20:29941903-29941906	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr20:29943860-29944016	MCF10A-Er-Src	breast:	n/a	n/a
21	FOSL2	chr20:29941806-29942004	HepG2	liver:	n/a	chr20:29941912-29941919 chr20:29941907-29941919 chr20:29941909-29941916 chr20:29941908-29941917 chr20:29941909-29941917
22	FOXA2	chr20:29920676-29921340	A549	lung:	n/a	n/a
23	FOXA2	chr20:29920842-29921264	A549	lung:	n/a	n/a
24	GATA3	chr20:29943717-29944172	SK-N-SH	brain:	n/a	n/a
25	GATA3	chr20:29943752-29944208	SK-N-SH	brain:	n/a	n/a
26	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
27	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
28	JUND	chr20:29928261-29928393	HepG2	liver:	n/a	chr20:29928355-29928364
29	MAFF	chr20:29919439-29919719	HepG2	liver:	n/a	n/a
30	MAFF	chr20:29919974-29920182	HepG2	liver:	n/a	chr20:29920072-29920090
31	MAFK	chr20:29910663-29910720	HepG2	liver:	n/a	chr20:29910692-29910706 chr20:29910694-29910705 chr20:29910693-29910709 chr20:29910693-29910708 chr20:29910694-29910705 chr20:29910693-29910704 chr20:29910693-29910704
32	MAFK	chr20:29919421-29919744	HepG2	liver:	n/a	n/a
33	MAFK	chr20:29910681-29910725	HepG2	liver:	n/a	chr20:29910692-29910706 chr20:29910694-29910705 chr20:29910693-29910709 chr20:29910693-29910708 chr20:29910694-29910705 chr20:29910693-29910704 chr20:29910693-29910704
34	MAFK	chr20:29934408-29934476	HepG2	liver:	n/a	n/a
35	MAFK	chr20:29942790-29942865	HepG2	liver:	n/a	n/a
36	MAFK	chr20:29934321-29934522	HepG2	liver:	n/a	n/a
37	MAFK	chr20:29919970-29920203	HepG2	liver:	n/a	chr20:29920073-29920088 chr20:29920077-29920088 chr20:29920076-29920090 chr20:29920078-29920089 chr20:29920073-29920089 chr20:29920078-29920089
38	MAFK	chr20:29919463-29920239	HepG2	liver:	n/a	chr20:29920073-29920088 chr20:29920077-29920088 chr20:29920076-29920090 chr20:29920078-29920089 chr20:29920073-29920089 chr20:29920078-29920089
39	MAFK	chr20:29919559-29919648	IMR90	lung:	n/a	n/a
40	NFYA	chr20:29912585-29912690	K562	blood:	n/a	n/a
41	PML	chr20:29929228-29929624	K562	blood:	n/a	n/a
42	POLR2A	chr20:29935182-29935218	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr20:29936699-29936853	MCF-7	breast:	n/a	n/a
44	POLR2A	chr20:29910441-29910565	Gliobla	brain:	n/a	n/a
45	POLR2A	chr20:29943956-29943997	ProgFib	skin:	n/a	n/a
46	POLR2A	chr20:29937003-29937020	MCF-7	breast:	n/a	n/a
47	POLR2A	chr20:29936765-29936828	Gliobla	brain:	n/a	n/a
48	POLR2A	chr20:29920665-29920684	MCF-7	breast:	n/a	n/a
49	RCOR1	chr20:29929347-29929603	K562	blood:	n/a	n/a
50	TAL1	chr20:29929243-29929613	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:29940769..29942399-chr20:29945457..29948097,2	MCF-7	breast:
2	chr20:29933564..29935935-chr20:29935958..29938008,2	MCF-7	breast:
3	chr20:29874751..29877240-chr20:29903779..29906129,2	K562	blood:
4	chr20:29940769..29942399-chr20:29945457..29948097,2	MCF-7	breast:
5	chr20:29905971..29908391-chr20:29910613..29913391,2	K562	blood:
6	chr20:29933564..29935935-chr20:29935958..29938008,2	MCF-7	breast:
7	chr20:29905971..29908391-chr20:29910613..29913391,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEFB119-2	chr20:29930249-29931017	NONHSAT079285
2	lnc-DEFB119-2	chr20:29931121-29931202	NONHSAT079285
3	lnc-DEFB119-2	chr20:29931511-29932274	NONHSAT079285
4	lnc-DEFB119-2	chr20:29929174-29929962	NONHSAT079285

Variant related genes	Relation type
RPL31P3	TF binding region
RNA5SP480	TF binding region
DEFB117	TF binding region
HAUS6P2	TF binding region

Extended variants
information (count: 334 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188025539	chr20:29904275-29904276	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs539756651	chr20:29904290-29904291	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs550482675	chr20:29904340-29904341	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs193023343	chr20:29904345-29904346	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs556414555	chr20:29904350-29904351	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs558098359	chr20:29904351-29904352	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs6141273	chr20:29904377-29904378	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
8	rs572212303	chr20:29904385-29904386	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs577943828	chr20:29904396-29904397	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs534767206	chr20:29904416-29904417	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs142326793	chr20:29904621-29904622	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs550299940	chr20:29904661-29904662	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs540798618	chr20:29904702-29904703	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs115793164	chr20:29904705-29904706	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs559225824	chr20:29904717-29904718	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs371132784	chr20:29904721-29904722	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs529982240	chr20:29912430-29912431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs543726531	chr20:29912450-29912451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs7508778	chr20:29912456-29912457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs186083241	chr20:29912458-29912459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs4461333	chr20:29912460-29912461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs565385579	chr20:29912488-29912489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs189321686	chr20:29912496-29912497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs369197033	chr20:29912514-29912515	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs73105921	chr20:29912526-29912527	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs567629008	chr20:29912539-29912540	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs562675276	chr20:29912551-29912552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs536633531	chr20:29912570-29912571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs77537230	chr20:29912608-29912609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs566750249	chr20:29912609-29912610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs533130937	chr20:29912630-29912631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs551867215	chr20:29912706-29912707	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs144618246	chr20:29912708-29912709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs138393029	chr20:29912758-29912759	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs566831400	chr20:29912783-29912784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs530021895	chr20:29918434-29918435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs546920255	chr20:29918437-29918438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs560006596	chr20:29918439-29918440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs140195734	chr20:29918472-29918473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs143920709	chr20:29918476-29918477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs73105938	chr20:29918482-29918483	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs537915141	chr20:29918500-29918501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs571645074	chr20:29918507-29918508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs547958661	chr20:29918515-29918516	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs561092010	chr20:29918537-29918538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs370596788	chr20:29918612-29918613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs553741807	chr20:29918614-29918615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs573536154	chr20:29918646-29918647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs182049231	chr20:29918666-29918667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs559166249	chr20:29918681-29918682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29912400-29912800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:29918400-29919800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr20:29935800-29937200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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