Variant report

Variant	esv3396113
Chromosome Location	chr20:53486545-53490143
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:53487853..53490611-chr20:53501403..53504058,2	MCF-7	breast:
2	chr20:53482315..53484847-chr20:53489728..53491356,2	MCF-7	breast:
3	chr20:53485625..53487827-chr20:53496627..53498549,2	MCF-7	breast:
4	chr20:53486873..53489531-chr20:53490291..53491928,2	MCF-7	breast:
5	chr20:53486051..53487926-chr20:53489950..53491873,2	MCF-7	breast:
6	chr20:53488399..53491672-chr20:53492910..53495826,3	MCF-7	breast:
7	chr20:53486051..53487926-chr20:53489950..53491873,2	MCF-7	breast:
8	chr20:42836318..42837241-chr20:53487584..53488313,2	MCF-7	breast:
9	chr2:219260803..219263547-chr20:53489297..53491896,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DOK5-2	chr20:53488074-53488248	NONHSAT080422

No data

Variant related genes	Relation type
ENSG00000144579	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535671795	chr20:53488087-53488088	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs144874379	chr20:53488110-53488111	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs6064124	chr20:53488127-53488128	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs534422092	chr20:53488152-53488153	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs557844943	chr20:53488158-53488159	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs577751104	chr20:53488171-53488172	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs543440697	chr20:53488186-53488187	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs557715974	chr20:53488209-53488210	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs574235815	chr20:53488213-53488214	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs1398113	chr20:53488219-53488220	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs530925459	chr20:53489315-53489316	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544268625	chr20:53489340-53489341	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs186323700	chr20:53489354-53489355	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs530062794	chr20:53489372-53489373	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549047476	chr20:53489388-53489389	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs565961358	chr20:53489435-53489436	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs77668417	chr20:53489490-53489491	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369355147	chr20:53489491-53489492	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs551587346	chr20:53489516-53489517	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs571432518	chr20:53489548-53489549	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs191523580	chr20:53489574-53489575	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs557050951	chr20:53489597-53489598	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs6064126	chr20:53489598-53489599	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs182827357	chr20:53489618-53489619	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs377267489	chr20:53489656-53489657	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs369204985	chr20:53489731-53489732	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs373743305	chr20:53489748-53489749	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553439021	chr20:53489764-53489765	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs142573414	chr20:53489780-53489781	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs376617630	chr20:53489829-53489830	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs541569689	chr20:53489843-53489844	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs558746026	chr20:53489894-53489895	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs575384422	chr20:53489928-53489929	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs544309334	chr20:53489985-53489986	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs561424451	chr20:53490007-53490008	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	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
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
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myelodysplastic syndrome	21251322	CNVD
Ductal carcinoma	22052326	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Ovarian cancer	22174824	CNVD
Lung cancer	16740712	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16620391	CNVD
Okamoto syndrome	17623483	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Cervical cancer	16585170	CNVD
Ovarian cancer	20844748	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20459607	CNVD
Gastric cancer	18160780	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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