Variant report

Variant	nsv962570
Chromosome Location	chr20:29570138-29577769
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	MAX	chr20:29570771-29571171	K562	blood:	n/a	n/a
7	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
8	MAX	chr20:29570857-29571083	K562	blood:	n/a	n/a
9	MAX	chr20:29570876-29571040	K562	blood:	n/a	n/a
10	NFYB	chr20:29570356-29570625	K562	blood:	n/a	chr20:29570467-29570477 chr20:29570465-29570479
11	SP1	chr20:29574784-29575048	GM12878	blood:	n/a	n/a
12	USF1	chr20:29570300-29570599	SK-N-SH_RA	brain:	n/a	chr20:29570483-29570494
13	USF1	chr20:29570315-29570591	K562	blood:	n/a	chr20:29570483-29570494
14	USF1	chr20:29570386-29570619	SK-N-SH_RA	brain:	n/a	chr20:29570483-29570494
15	USF1	chr20:29570337-29570582	HepG2	liver:	n/a	chr20:29570483-29570494
16	USF1	chr20:29570928-29571125	K562	blood:	n/a	n/a
17	USF1	chr20:29570302-29570583	K562	blood:	n/a	chr20:29570483-29570494
18	USF1	chr20:29570387-29570574	HepG2	liver:	n/a	chr20:29570483-29570494
19	ZBTB33	chr20:29574770-29575109	HepG2	liver:	n/a	n/a

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

Variant related genes	Relation type
ENSG00000231934	TF binding region

Extended variants
information (count: 211 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:211 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3893920	chr20:29570152-29570153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189404709	chr20:29570156-29570157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112997924	chr20:29570166-29570167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6119043	chr20:29570174-29570175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550295545	chr20:29570180-29570181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3878804	chr20:29570190-29570191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1810595	chr20:29570194-29570195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574504978	chr20:29570227-29570228	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs2379735	chr20:29570248-29570249	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs112194537	chr20:29570259-29570260	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs4010865	chr20:29570267-29570268	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs4010864	chr20:29570275-29570276	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs560238134	chr20:29570284-29570285	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs372249393	chr20:29570292-29570293	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs4010863	chr20:29570296-29570297	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs552123961	chr20:29570297-29570298	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs180958712	chr20:29570298-29570299	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs4010862	chr20:29570326-29570327	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs7509602	chr20:29570352-29570353	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs59717337	chr20:29570360-29570361	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs183868229	chr20:29570370-29570371	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs2254254	chr20:29570373-29570374	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs73619154	chr20:29570378-29570379	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs2424860	chr20:29570381-29570382	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs115226745	chr20:29570399-29570400	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs4010861	chr20:29570417-29570418	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs367630534	chr20:29570448-29570449	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs2379734	chr20:29570456-29570457	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs371861065	chr20:29570460-29570461	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs139122462	chr20:29570474-29570475	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs188597473	chr20:29570482-29570483	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs73619155	chr20:29570500-29570501	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs4010860	chr20:29570503-29570504	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs73619156	chr20:29570509-29570510	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs558854459	chr20:29570525-29570526	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs3071056	chr20:29570531-29570532	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs575445358	chr20:29570571-29570572	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs112925154	chr20:29570576-29570577	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs537911633	chr20:29570597-29570598	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs73619157	chr20:29570613-29570614	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs1810594	chr20:29570631-29570632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73619158	chr20:29570639-29570640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1810593	chr20:29570641-29570642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2379733	chr20:29570661-29570662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73619159	chr20:29570686-29570687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73619160	chr20:29570707-29570708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73619161	chr20:29570708-29570709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574490868	chr20:29570722-29570723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546074213	chr20:29570748-29570749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540310902	chr20:29570749-29570750	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:4 , 50 per page) page: 1

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

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