Variant report

Variant	nsv585868
Chromosome Location	chr20:29452864-29500248
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	BATF	chr20:29463964-29464153	GM12878	blood:	n/a	n/a
2	BHLHE40	chr20:29462871-29462953	K562	blood:	n/a	n/a
3	CEBPB	chr20:29483555-29483577	HepG2	liver:	n/a	chr20:29483559-29483570
4	CEBPB	chr20:29460480-29460723	K562	blood:	n/a	n/a
5	CEBPD	chr20:29460489-29460959	K562	blood:	n/a	n/a
6	CHD2	chr20:29462906-29463111	K562	blood:	n/a	n/a
7	CTCF	chr20:29456660-29456810	HCPEpiC	choroid plexus:	n/a	n/a
8	CTCF	chr20:29491027-29491053	GM10266	blood:	n/a	n/a
9	CTCF	chr20:29481538-29481600	Medullo	brain:	n/a	n/a
10	CTCF	chr20:29493914-29493992	Lung_OC	lung:	n/a	n/a
11	CTCF	chr20:29454660-29454810	WI-38	lung:	n/a	n/a
12	CTCF	chr20:29468407-29468441	LNCaP	prostate:	n/a	n/a
13	CTCF	chr20:29485579-29485624	GM13976	blood:	n/a	n/a
14	CTCF	chr20:29456700-29456850	HPF	lung:	n/a	n/a
15	CTCF	chr20:29484140-29484290	BE2_C	brain:	n/a	n/a
16	CTCF	chr20:29456660-29456810	HA-sp	spinal cord:	n/a	n/a
17	EP300	chr20:29460624-29460749	K562	blood:	n/a	n/a
18	EP300	chr20:29462928-29462939	K562	blood:	n/a	n/a
19	GATA1	chr20:29460460-29460979	PBDE	blood:	n/a	chr20:29460683-29460692
20	GATA2	chr20:29494052-29494416	K562	blood:	n/a	n/a
21	GATA2	chr20:29460497-29460784	K562	blood:	n/a	chr20:29460683-29460692
22	GATA2	chr20:29493253-29493476	K562	blood:	n/a	n/a
23	HEY1	chr20:29462929-29463143	K562	blood:	n/a	n/a
24	HEY1	chr20:29462851-29463161	K562	blood:	n/a	n/a
25	JUND	chr20:29469350-29469440	K562	blood:	n/a	chr20:29469377-29469389 chr20:29469384-29469392
26	MAFK	chr20:29479935-29479983	HepG2	liver:	n/a	n/a
27	MAX	chr20:29462851-29463004	K562	blood:	n/a	n/a
28	MAX	chr20:29462797-29463083	K562	blood:	n/a	n/a
29	MYC	chr20:29462921-29462945	K562	blood:	n/a	n/a
30	POLR2A	chr20:29456744-29456792	A549	lung:	n/a	n/a
31	POLR2A	chr20:29462911-29463194	K562	blood:	n/a	n/a
32	POLR2A	chr20:29461036-29461119	A549	lung:	n/a	n/a
33	POLR2A	chr20:29470287-29470359	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr20:29462872-29463190	K562	blood:	n/a	n/a
35	POLR2A	chr20:29462898-29463168	K562	blood:	n/a	n/a
36	POLR2A	chr20:29460709-29460779	ProgFib	skin:	n/a	n/a
37	POLR2A	chr20:29462877-29463092	K562	blood:	n/a	n/a
38	POU2F2	chr20:29454576-29454854	GM12878	blood:	n/a	n/a
39	SIN3AK20	chr20:29459353-29459517	HepG2	liver:	n/a	n/a
40	SP1	chr20:29454565-29454671	HepG2	liver:	n/a	n/a
41	SPI1	chr20:29469288-29469554	HL-60	blood:	n/a	chr20:29469372-29469379 chr20:29469370-29469383
42	SPI1	chr20:29462834-29462988	K562	blood:	n/a	n/a
43	SPI1	chr20:29469263-29469455	K562	blood:	n/a	chr20:29469372-29469379 chr20:29469370-29469383
44	SPI1	chr20:29469251-29469475	K562	blood:	n/a	chr20:29469372-29469379 chr20:29469370-29469383
45	SPI1	chr20:29469249-29469569	HL-60	blood:	n/a	chr20:29469372-29469379 chr20:29469370-29469383
46	TAL1	chr20:29494135-29494338	K562	blood:	n/a	n/a
47	TAL1	chr20:29460711-29460731	K562	blood:	n/a	n/a
48	TBP	chr20:29463007-29463036	K562	blood:	n/a	n/a
49	USF1	chr20:29462782-29463021	K562	blood:	n/a	n/a
50	YY1	chr20:29462924-29463171	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEFB116-8	chr20:29480007-29480099	NONHSAT079262
2	lnc-DEFB116-8	chr20:29480482-29480644	NONHSAT079262
3	lnc-DEFB116-8	chr20:29472900-29473142	NONHSAT079262

Variant related genes	Relation type
ENSG00000204555	TF binding region

Extended variants
information (count: 469 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:469 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77482375	chr20:29454599-29454600	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs111654568	chr20:29454615-29454616	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs201397898	chr20:29454619-29454620	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs199563054	chr20:29454636-29454637	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs572653597	chr20:29454646-29454647	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs12329497	chr20:29454648-29454649	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs62196431	chr20:29459201-29459202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79858277	chr20:29459204-29459205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62196432	chr20:29459213-29459214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76575546	chr20:29459214-29459215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62196446	chr20:29459225-29459226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145476024	chr20:29459234-29459235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191627592	chr20:29459247-29459248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79105447	chr20:29459248-29459249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79686912	chr20:29459250-29459251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs80291859	chr20:29459254-29459255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6087187	chr20:29459264-29459265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547917326	chr20:29459273-29459274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs66972960	chr20:29459281-29459282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74320211	chr20:29459285-29459286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74541982	chr20:29459288-29459289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77680015	chr20:29459296-29459297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77669843	chr20:29459298-29459299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200763529	chr20:29459309-29459310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533189821	chr20:29459321-29459322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75255382	chr20:29459329-29459330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78746294	chr20:29459330-29459331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76095717	chr20:29459333-29459334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549630711	chr20:29459357-29459358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111812911	chr20:29459360-29459361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201439011	chr20:29459363-29459364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569637923	chr20:29459382-29459383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535592705	chr20:29459387-29459388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548918479	chr20:29459408-29459409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs3954496	chr20:29459410-29459411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2890259	chr20:29459416-29459417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12106135	chr20:29459419-29459420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534414349	chr20:29459421-29459422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2379810	chr20:29459422-29459423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs3954495	chr20:29459458-29459459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs79320765	chr20:29459460-29459461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557912260	chr20:29459481-29459482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78229674	chr20:29459482-29459483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577695069	chr20:29459490-29459491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537057432	chr20:29459498-29459499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370597967	chr20:29459499-29459500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4010669	chr20:29459501-29459502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370203030	chr20:29459515-29459516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556867145	chr20:29459536-29459537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576665525	chr20:29459561-29459562	Enhancers	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	22522925	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Amyotrophic lateral sclerosis	20688871	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29459200-29461200	Enhancers	Dnd41	blood
2	chr20:29463000-29463800	Active TSS	K562	blood
3	chr20:29468800-29470400	Enhancers	Dnd41	blood
4	chr20:29468800-29470600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr20:29476400-29477200	Enhancers	Dnd41	blood
6	chr20:29476600-29477000	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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