Variant report

Variant	esv3440539
Chromosome Location	chr20:52998221-52998732
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:52988978..52989642-chr20:52998098..52998652,2	MCF-7	breast:
2	chr20:52973466..52976462-chr20:52997243..52999225,2	MCF-7	breast:
3	chr20:52997578..52999622-chr20:53008230..53009786,2	MCF-7	breast:
4	chr20:52824509..52827082-chr20:52997204..52998717,2	MCF-7	breast:
5	chr20:52998265..52998905-chr20:53096241..53096887,2	MCF-7	breast:
6	chr20:52983863..52986994-chr20:52995623..52998239,3	MCF-7	breast:
7	chr20:52996776..52999241-chr8:143808318..143810131,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101132	chromatin interactions
ENSG00000130193	chromatin interactions
ENSG00000253806	chromatin interactions
ENSG00000253741	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566802462	chr20:52998264-52998265	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs6023179	chr20:52998284-52998285	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs189335431	chr20:52998295-52998296	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs530689798	chr20:52998330-52998331	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs369105614	chr20:52998352-52998353	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs73145250	chr20:52998355-52998356	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs374431488	chr20:52998468-52998469	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs6091861	chr20:52998492-52998493	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs80322235	chr20:52998501-52998502	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs567337983	chr20:52998518-52998519	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs6127191	chr20:52998525-52998526	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs57899484	chr20:52998557-52998558	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs6127192	chr20:52998587-52998588	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs6091862	chr20:52998606-52998607	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs371745041	chr20:52998732-52998733	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Breast cancer	21509527	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52998200-52999200	Weak transcription	H9 Cell Line	embryonic stem cell

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