Variant report

Variant	nsv520547
Chromosome Location	chr20:22767280-22771404
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	chr20:22770829..22772880-chr20:22773883..22775760,2	MCF-7	breast:
2	chr20:22766590..22768153-chr20:22786046..22787967,2	MCF-7	breast:

Extended variants
information (count: 182 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2424476	chr20:22767280-22767281	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536654895	chr20:22767321-22767322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553455029	chr20:22767363-22767364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185385220	chr20:22767369-22767370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs60445726	chr20:22767424-22767425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs190241759	chr20:22767432-22767433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183069577	chr20:22767439-22767440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535746157	chr20:22767484-22767485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543321279	chr20:22767494-22767495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142722182	chr20:22767497-22767498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185968878	chr20:22767561-22767562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73900573	chr20:22767588-22767589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190792714	chr20:22767597-22767598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183888453	chr20:22767629-22767630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545569236	chr20:22767654-22767655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565366000	chr20:22767665-22767666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544273829	chr20:22767676-22767677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562575878	chr20:22767688-22767689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555233436	chr20:22767745-22767746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575385367	chr20:22767805-22767806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567963150	chr20:22767864-22767865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139598114	chr20:22767924-22767925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141725791	chr20:22767975-22767976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188049642	chr20:22767979-22767980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115324830	chr20:22768007-22768008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192139018	chr20:22768030-22768031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6082837	chr20:22768095-22768096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs571318387	chr20:22768138-22768139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183120732	chr20:22768147-22768148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187095575	chr20:22768155-22768156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573648834	chr20:22768189-22768190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375265670	chr20:22768191-22768192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150555420	chr20:22768201-22768202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2424477	chr20:22768210-22768211	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs139579113	chr20:22768245-22768246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6075955	chr20:22768279-22768280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs77444038	chr20:22768283-22768284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549153504	chr20:22768310-22768311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34814391	chr20:22768317-22768318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544866876	chr20:22768344-22768345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6036216	chr20:22768362-22768363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6075956	chr20:22768375-22768376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs79382525	chr20:22768411-22768412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369881039	chr20:22768414-22768415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6082838	chr20:22768430-22768431	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs149734976	chr20:22768432-22768433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532553209	chr20:22768433-22768434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146274625	chr20:22768435-22768436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571891649	chr20:22768468-22768469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4813466	chr20:22768475-22768476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Cancer	20164919	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22758000-22772000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:22761000-22768800	Weak transcription	Aorta	Aorta
3	chr20:22764800-22770200	Weak transcription	Right Atrium	heart
4	chr20:22767200-22767400	Enhancers	Esophagus	oesophagus
5	chr20:22768400-22768800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr20:22768600-22768800	Enhancers	Placenta	Placenta
7	chr20:22768600-22769000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr20:22768800-22769000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr20:22768800-22769000	ZNF genes & repeats	Aorta	Aorta
10	chr20:22768800-22769000	Enhancers	Fetal Muscle Trunk	muscle
11	chr20:22768800-22769000	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr20:22768800-22769200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr20:22768800-22769200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr20:22768800-22770000	Weak transcription	Placenta	Placenta
15	chr20:22769000-22770200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr20:22769000-22770400	Weak transcription	Aorta	Aorta
17	chr20:22769200-22770200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr20:22770000-22770400	Enhancers	Fetal Kidney	kidney
19	chr20:22770000-22770600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr20:22770000-22770800	Enhancers	Placenta	Placenta
21	chr20:22770000-22771000	Enhancers	Fetal Muscle Leg	muscle
22	chr20:22770200-22770400	Enhancers	A549	lung
23	chr20:22770200-22770800	Enhancers	Right Atrium	heart
24	chr20:22770200-22771000	Enhancers	Fetal Muscle Trunk	muscle
25	chr20:22770200-22771000	Enhancers	Ovary	ovary
26	chr20:22770400-22771000	Enhancers	Aorta	Aorta
27	chr20:22770400-22771000	Enhancers	Fetal Stomach	stomach
28	chr20:22770400-22775400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr20:22770600-22771000	Enhancers	Right Ventricle	heart
30	chr20:22770600-22772000	Weak transcription	A549	lung
31	chr20:22770600-22775800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr20:22770800-22772200	Weak transcription	Placenta	Placenta
33	chr20:22771000-22772200	Weak transcription	Fetal Stomach	stomach
34	chr20:22771000-22774200	Weak transcription	Aorta	Aorta
35	chr20:22771000-22774200	Weak transcription	Fetal Muscle Leg	muscle
36	chr20:22771000-22775400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr20:22771000-22776000	Weak transcription	Ovary	ovary

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