Variant report

Variant	nsv979486
Chromosome Location	chr20:22823173-22827240
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	chr20:22823404..22825308-chr20:23028856..23030411,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178726	chromatin interactions

Extended variants
information (count: 214 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570953030	chr20:22823241-22823242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190770032	chr20:22823257-22823258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116321767	chr20:22823260-22823261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575310529	chr20:22823283-22823284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147375169	chr20:22823296-22823297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554520844	chr20:22823310-22823311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371021972	chr20:22823331-22823332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539833752	chr20:22823339-22823340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs8114322	chr20:22823348-22823349	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs559132616	chr20:22823361-22823362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11905036	chr20:22823379-22823380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs545616616	chr20:22823399-22823400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11905073	chr20:22823402-22823403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs112132924	chr20:22823416-22823417	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs138042830	chr20:22823427-22823428	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs73301685	chr20:22823446-22823447	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs181006713	chr20:22823479-22823480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs528036666	chr20:22823487-22823488	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs547788117	chr20:22823493-22823494	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs570891676	chr20:22823494-22823495	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs539835264	chr20:22823501-22823502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs549978884	chr20:22823551-22823552	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs79502714	chr20:22823553-22823554	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs11905056	chr20:22823575-22823576	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs554384504	chr20:22823579-22823580	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs113704958	chr20:22823590-22823591	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs187128473	chr20:22823601-22823602	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553338031	chr20:22823608-22823609	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs576398304	chr20:22823646-22823647	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs553331475	chr20:22823671-22823672	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs545808401	chr20:22823675-22823676	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs562400584	chr20:22823689-22823690	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs567029943	chr20:22823700-22823701	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs576125366	chr20:22823719-22823720	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs542052779	chr20:22823729-22823730	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs75743051	chr20:22823812-22823813	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs527973113	chr20:22823831-22823832	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs143549660	chr20:22823834-22823835	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs35094443	chr20:22823835-22823836	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs564791322	chr20:22823839-22823840	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs374622638	chr20:22823852-22823853	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs138494093	chr20:22823860-22823861	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs550158497	chr20:22823865-22823866	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs545486240	chr20:22823867-22823868	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs139204693	chr20:22823873-22823874	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs192143631	chr20:22823882-22823883	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs535992626	chr20:22823886-22823887	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs372277591	chr20:22823890-22823891	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs16984633	chr20:22823916-22823917	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs567949993	chr20:22823947-22823948	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22818000-22823600	Weak transcription	Lung	lung
2	chr20:22822000-22831600	Weak transcription	A549	lung
3	chr20:22822600-22823200	Bivalent Enhancer	Fetal Brain Male	brain
4	chr20:22823600-22824000	Enhancers	Lung	lung
5	chr20:22824000-22825000	Weak transcription	Lung	lung
6	chr20:22825000-22825400	Enhancers	Lung	lung
7	chr20:22825400-22827200	Weak transcription	Lung	lung
8	chr20:22827000-22828000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr20:22827200-22827800	Enhancers	Lung	lung

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