Variant report

Variant	nsv9804
Chromosome Location	chr20:29569319-29577964
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	BHLHE40	chr20:29570929-29571032	K562	blood:	n/a	n/a
2	E2F6	chr20:29570890-29571093	K562	blood:	n/a	n/a
3	ELF1	chr20:29572765-29572951	K562	blood:	n/a	n/a
4	EP300	chr20:29575587-29575756	GM12878	blood:	n/a	n/a
5	FOSL2	chr20:29571451-29572093	HepG2	liver:	n/a	n/a
6	GABPA	chr20:29569266-29569492	Hela-S3	cervix:	n/a	n/a
7	MAX	chr20:29570876-29571040	K562	blood:	n/a	n/a
8	MAX	chr20:29570771-29571171	K562	blood:	n/a	n/a
9	MAX	chr20:29570368-29570596	K562	blood:	n/a	chr20:29570485-29570494 chr20:29570484-29570495 chr20:29570484-29570495 chr20:29570485-29570494 chr20:29570484-29570495 chr20:29570481-29570496 chr20:29570483-29570496 chr20:29570483-29570496 chr20:29570484-29570494 chr20:29570483-29570496 chr20:29570480-29570499 chr20:29570485-29570495 chr20:29570485-29570494 chr20:29570485-29570495 chr20:29570486-29570495 chr20:29570484-29570494
10	MAX	chr20:29570857-29571083	K562	blood:	n/a	n/a
11	NFYB	chr20:29570356-29570625	K562	blood:	n/a	chr20:29570467-29570477 chr20:29570465-29570479
12	POU2F2	chr20:29569119-29569490	GM12878	blood:	n/a	n/a
13	SP1	chr20:29574784-29575048	GM12878	blood:	n/a	n/a
14	USF1	chr20:29570315-29570591	K562	blood:	n/a	chr20:29570483-29570494
15	USF1	chr20:29570386-29570619	SK-N-SH_RA	brain:	n/a	chr20:29570483-29570494
16	USF1	chr20:29570928-29571125	K562	blood:	n/a	n/a
17	USF1	chr20:29570337-29570582	HepG2	liver:	n/a	chr20:29570483-29570494
18	USF1	chr20:29570302-29570583	K562	blood:	n/a	chr20:29570483-29570494
19	USF1	chr20:29570300-29570599	SK-N-SH_RA	brain:	n/a	chr20:29570483-29570494
20	USF1	chr20:29570387-29570574	HepG2	liver:	n/a	chr20:29570483-29570494
21	ZBTB33	chr20:29574770-29575109	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEFB116-1	chr20:29570232-29570484	NONHSAT079273
2	lnc-DEFB116-1	chr20:29570224-29570363	ENSG00000231934.1

Variant related genes	Relation type
ENSG00000231934	TF binding region

Extended variants
information (count: 255 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7363946	chr20:29569329-29569330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573658941	chr20:29569336-29569337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7363947	chr20:29569343-29569344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7362375	chr20:29569349-29569350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573365677	chr20:29569377-29569378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193252021	chr20:29569389-29569390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs3866693	chr20:29569435-29569436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4080334	chr20:29569438-29569439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3896158	chr20:29569458-29569459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543862231	chr20:29569459-29569460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4080333	chr20:29569482-29569483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3954457	chr20:29569493-29569494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4010856	chr20:29569545-29569546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560825002	chr20:29569562-29569563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372697924	chr20:29569610-29569611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374271217	chr20:29569611-29569612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534259077	chr20:29569626-29569627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs3853386	chr20:29569680-29569681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529907450	chr20:29569699-29569700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2424855	chr20:29569781-29569782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs370687700	chr20:29569808-29569809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577213263	chr20:29569833-29569834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6057303	chr20:29569839-29569840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56118036	chr20:29569867-29569868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs3895222	chr20:29569879-29569880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2424857	chr20:29569890-29569891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139030867	chr20:29569891-29569892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140702061	chr20:29569899-29569900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6057304	chr20:29569928-29569929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185724530	chr20:29569942-29569943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3878856	chr20:29569947-29569948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2424858	chr20:29569953-29569954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs568902173	chr20:29569985-29569986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2313419	chr20:29570008-29570009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138378357	chr20:29570011-29570012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4010846	chr20:29570012-29570013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548236202	chr20:29570019-29570020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs397842511	chr20:29570029-29570030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58963659	chr20:29570067-29570068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs4010844	chr20:29570075-29570076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536906062	chr20:29570083-29570084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548926830	chr20:29570092-29570093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553393911	chr20:29570111-29570112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6119042	chr20:29570122-29570123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs3893920	chr20:29570152-29570153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189404709	chr20:29570156-29570157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112997924	chr20:29570166-29570167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6119043	chr20:29570174-29570175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550295545	chr20:29570180-29570181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs3878804	chr20:29570190-29570191	Weak transcription	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
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29562200-29572000	Weak transcription	Aorta	Aorta
2	chr20:29568600-29569600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr20:29569600-29570200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr20:29570200-29570400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr20:29572000-29572200	Enhancers	Aorta	Aorta

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