Variant report

Variant	nsv1066350
Chromosome Location	chr20:21758674-21792596
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:21773919..21776758-chr20:22060246..22062031,2	MCF-7	breast:
2	chr20:21772393..21774535-chr20:21776621..21779148,2	K562	blood:
3	chr20:21769567..21771948-chr20:21772633..21774551,2	K562	blood:
4	chr20:21789492..21790367-chr20:22293270..22294029,3	MCF-7	breast:
5	chr20:21776538..21777331-chr20:22293151..22293944,2	MCF-7	breast:
6	chr20:21776519..21777104-chr20:22086867..22087439,2	MCF-7	breast:
7	chr20:21792123..21794803-chr20:22267492..22269699,2	K562	blood:
8	chr20:21769567..21771948-chr20:21772633..21774551,2	K562	blood:
9	chr20:21772393..21774535-chr20:21776621..21779148,2	K562	blood:
10	chr20:21770055..21770943-chr20:21789690..21790339,2	MCF-7	breast:
11	chr20:21776457..21777366-chr20:22087050..22087753,3	MCF-7	breast:
12	chr20:21765298..21765971-chr7:823685..824368,2	MCF-7	breast:
13	chr20:21775602..21776151-chr20:22086395..22086962,2	MCF-7	breast:
14	chr20:21789416..21790152-chr20:22228343..22228915,2	K562	blood:
15	chr20:21770055..21770943-chr20:21789690..21790339,2	MCF-7	breast:
16	chr20:21752738..21755442-chr20:21758737..21760243,2	MCF-7	breast:
17	chr20:21699961..21700834-chr20:21789701..21790300,2	MCF-7	breast:
18	chr20:21788351..21791666-chr20:22086552..22088383,19	MCF-7	breast:
19	chr20:21789602..21790361-chr20:22086683..22087584,5	MCF-7	breast:

No data

Extended variants
information (count: 672 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376936826	chr20:21760424-21760425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561500848	chr20:21760452-21760453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558121658	chr20:21760482-21760483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552547706	chr20:21760558-21760559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575042099	chr20:21760584-21760585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543905849	chr20:21760587-21760588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554202434	chr20:21760595-21760596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574559909	chr20:21760619-21760620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540393522	chr20:21760631-21760632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560212987	chr20:21760634-21760635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78726724	chr20:21760701-21760702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546270052	chr20:21760719-21760720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571208185	chr20:21760755-21760756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371628683	chr20:21760815-21760816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6113365	chr20:21760835-21760836	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs548717093	chr20:21760853-21760854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568515027	chr20:21760929-21760930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527909304	chr20:21761018-21761019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186222284	chr20:21761116-21761117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571098517	chr20:21761120-21761121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190344410	chr20:21761121-21761122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11477241	chr20:21761143-21761144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565756713	chr20:21761156-21761157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71212779	chr20:21761182-21761183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6047620	chr20:21761183-21761184	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs537412240	chr20:21761192-21761193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554263900	chr20:21761195-21761196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574450301	chr20:21761229-21761230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540085730	chr20:21761234-21761235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369179606	chr20:21761241-21761242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116632159	chr20:21761246-21761247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576920115	chr20:21761249-21761250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546131151	chr20:21761262-21761263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182110374	chr20:21761275-21761276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576528680	chr20:21761323-21761324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542223676	chr20:21761331-21761332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370834933	chr20:21761347-21761348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562075658	chr20:21761467-21761468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527777476	chr20:21761476-21761477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547721107	chr20:21761514-21761515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576113953	chr20:21761523-21761524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145500334	chr20:21761527-21761528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533309224	chr20:21761547-21761548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2328670	chr20:21761556-21761557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2328671	chr20:21761559-21761560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550076280	chr20:21761593-21761594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537255831	chr20:21761597-21761598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569984915	chr20:21761634-21761635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558429273	chr20:21761639-21761640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs13038033	chr20:21761669-21761670	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:21760400-21762200	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr20:21762000-21762600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:21762000-21762800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr20:21762200-21762800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr20:21762200-21762800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr20:21762400-21762800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr20:21776800-21779400	Weak transcription	Right Atrium	heart
8	chr20:21778600-21778800	Enhancers	Fetal Muscle Leg	muscle
9	chr20:21778800-21781600	Weak transcription	Fetal Muscle Leg	muscle
10	chr20:21779200-21779400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr20:21779200-21779400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr20:21779400-21790000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr20:21781600-21782000	Enhancers	Fetal Muscle Leg	muscle
14	chr20:21785000-21786400	Enhancers	Colon Smooth Muscle	Colon
15	chr20:21786400-21786800	Weak transcription	Colon Smooth Muscle	Colon
16	chr20:21786800-21787600	Enhancers	Colon Smooth Muscle	Colon
17	chr20:21789800-21790000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr20:21789800-21790400	Enhancers	Placenta	Placenta
19	chr20:21790000-21790200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr20:21790000-21791000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr20:21790400-21790800	Bivalent Enhancer	Placenta	Placenta

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