Variant report

Variant	esv3348773
Chromosome Location	chr20:40901692-40902272
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:57924051..57926636-chr20:40901222..40902722,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201524	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139229466	chr20:40901705-40901706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs183794387	chr20:40901709-40901710	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs370225556	chr20:40901716-40901717	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs6016732	chr20:40901723-40901724	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs572997630	chr20:40901795-40901796	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs541717812	chr20:40901906-40901907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs6016733	chr20:40901948-40901949	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs144929564	chr20:40901959-40901960	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs543389120	chr20:40901965-40901966	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs7348604	chr20:40901997-40901998	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs12624403	chr20:40902053-40902054	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs532460047	chr20:40902067-40902068	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs6065454	chr20:40902104-40902105	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs545938743	chr20:40902132-40902133	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs559641449	chr20:40902134-40902135	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs34666633	chr20:40902135-40902136	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs142036810	chr20:40902144-40902145	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs368310113	chr20:40902247-40902248	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
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
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
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	19193619	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelodysplastic syndrome	17634407	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ductal carcinoma	22052326	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	22539939	CNVD
Myelofibrosis	22110671	CNVD
Cervical cancer	16585170	CNVD
Ovarian neoplasms	16753589	CNVD
Infertility	21528002	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Schizophrenia	23813976	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40885400-40902800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:40896600-40905400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr20:40901600-40904000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:40901600-40905800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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