Variant report

Variant	esv3351291
Chromosome Location	chr20:40922654-40950938
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:40940770..40942832-chr20:40947737..40949498,2	MCF-7	breast:
2	chr20:40945609..40947782-chr20:40948642..40950404,2	K562	blood:
3	chr20:40940770..40942832-chr20:40947737..40949498,2	MCF-7	breast:
4	chr20:40945609..40947782-chr20:40948642..40950404,2	K562	blood:

Extended variants
information (count: 1072 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1072 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567754897	chr20:40923004-40923005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142129028	chr20:40923006-40923007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187019515	chr20:40923055-40923056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538489122	chr20:40923118-40923119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143081191	chr20:40923123-40923124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546421040	chr20:40923142-40923143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560002383	chr20:40923196-40923197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190281065	chr20:40923207-40923208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548244307	chr20:40923208-40923209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148212841	chr20:40923216-40923217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537117604	chr20:40923219-40923220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73909259	chr20:40923270-40923271	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs570987539	chr20:40923304-40923305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540024046	chr20:40923305-40923306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553643916	chr20:40923309-40923310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573410623	chr20:40923316-40923317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536155082	chr20:40923325-40923326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555028568	chr20:40923338-40923339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376728326	chr20:40923349-40923350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182845418	chr20:40923510-40923511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550353738	chr20:40923512-40923513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571708861	chr20:40923514-40923515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563821314	chr20:40923586-40923587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577356370	chr20:40923641-40923642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540033288	chr20:40923644-40923645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141158773	chr20:40923652-40923653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150714642	chr20:40923658-40923659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542926213	chr20:40923762-40923763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556330296	chr20:40923864-40923865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6130098	chr20:40923875-40923876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138492552	chr20:40923919-40923920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187480744	chr20:40923922-40923923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6030115	chr20:40923991-40923992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs143055949	chr20:40924048-40924049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193228267	chr20:40924091-40924092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185624393	chr20:40924096-40924097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146135079	chr20:40924203-40924204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73120068	chr20:40924236-40924237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554284179	chr20:40924273-40924274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575726987	chr20:40924290-40924291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114323423	chr20:40924391-40924392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187723703	chr20:40924404-40924405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377582402	chr20:40924412-40924413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192337209	chr20:40924489-40924490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577275044	chr20:40924534-40924535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370897923	chr20:40924583-40924584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554200754	chr20:40924692-40924693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373867945	chr20:40924765-40924766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73616986	chr20:40924773-40924774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs573804720	chr20:40924788-40924789	Weak transcription	n/a	n/a	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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40923000-40934200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:40931400-40931800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr20:40931600-40932800	Enhancers	Fetal Brain Male	brain
4	chr20:40934200-40936000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr20:40936000-40942000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr20:40936800-40939200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr20:40937000-40938200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr20:40937200-40938000	Enhancers	Fetal Brain Female	brain
9	chr20:40937200-40938400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr20:40937200-40939200	Enhancers	Brain Germinal Matrix	brain
11	chr20:40937400-40937800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr20:40937400-40938000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr20:40937400-40938200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr20:40937400-40938200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr20:40937400-40938600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr20:40937600-40939200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr20:40937800-40938200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr20:40938000-40939400	Weak transcription	Fetal Brain Female	brain
19	chr20:40938600-40939200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr20:40939200-40946800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr20:40939400-40939600	Enhancers	Fetal Brain Female	brain
22	chr20:40940400-40941800	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr20:40942000-40945000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr20:40942200-40942400	Bivalent Enhancer	GM12878-XiMat	blood
25	chr20:40942400-40942800	Enhancers	GM12878-XiMat	blood
26	chr20:40945000-40957400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr20:40945200-40945800	Enhancers	Brain Cingulate Gyrus	brain
28	chr20:40945200-40945800	Enhancers	Brain Hippocampus Middle	brain
29	chr20:40947000-40947400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr20:40947000-40947600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr20:40947000-40947600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr20:40947000-40947600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr20:40947200-40947600	Enhancers	Fetal Brain Female	brain
34	chr20:40947200-40947800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr20:40947200-40947800	Enhancers	Fetal Brain Male	brain
36	chr20:40947600-40948600	Weak transcription	Fetal Brain Female	brain
37	chr20:40947600-40949000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr20:40947800-40949000	Weak transcription	Fetal Brain Male	brain
39	chr20:40948600-40948800	Enhancers	Fetal Brain Female	brain
40	chr20:40949000-40949200	Enhancers	Fetal Brain Male	brain

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