Variant report

Variant	nsv585719
Chromosome Location	chr20:22070729-22151652
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:12)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:21788351..21791666-chr20:22086552..22088383,19	MCF-7	breast:
2	chr20:22079237..22079762-chr20:22293569..22294123,2	MCF-7	breast:
3	chr20:22086890..22087527-chr20:22228757..22229332,2	MCF-7	breast:
4	chr20:21776457..21777366-chr20:22087050..22087753,3	MCF-7	breast:
5	chr20:21620906..21621858-chr20:22086647..22087853,11	MCF-7	breast:
6	chr20:21789602..21790361-chr20:22086683..22087584,5	MCF-7	breast:
7	chr20:21699983..21700853-chr20:22086882..22087935,4	MCF-7	breast:
8	chr20:21699983..21700856-chr20:22086830..22087521,2	MCF-7	breast:
9	chr20:22067261..22069305-chr20:22072791..22075627,2	K562	blood:
10	chr20:21748036..21748770-chr20:22086694..22087215,2	MCF-7	breast:
11	chr20:21776519..21777104-chr20:22086867..22087439,2	MCF-7	breast:
12	chr20:21775602..21776151-chr20:22086395..22086962,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAX1-10	chr20:22150209-22150299	NONHSAT078964
2	lnc-PAX1-10	chr20:22151617-22151921	NONHSAT078964
3	lnc-PAX1-10	chr20:22149192-22149234	NONHSAT078964

No data

Extended variants
information (count: 526 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:526 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564167290	chr20:22078811-22078812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188688472	chr20:22078825-22078826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377599566	chr20:22078853-22078854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192544848	chr20:22078862-22078863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563457164	chr20:22078868-22078869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529219817	chr20:22078878-22078879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548966979	chr20:22078889-22078890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141833579	chr20:22078945-22078946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528821332	chr20:22078946-22078947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559319250	chr20:22078954-22078955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150622606	chr20:22078961-22078962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6113515	chr20:22078981-22078982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571773235	chr20:22078984-22078985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539527160	chr20:22078985-22078986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76599893	chr20:22079036-22079037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569790629	chr20:22079067-22079068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576692137	chr20:22079068-22079069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183365904	chr20:22079069-22079070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138803383	chr20:22079085-22079086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572296122	chr20:22079103-22079104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186667214	chr20:22079131-22079132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191377191	chr20:22079135-22079136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75500170	chr20:22079152-22079153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143152341	chr20:22079156-22079157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528338319	chr20:22079190-22079191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563393887	chr20:22079192-22079193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147499040	chr20:22079203-22079204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189456441	chr20:22079222-22079223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562184678	chr20:22079231-22079232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532772197	chr20:22079244-22079245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559531697	chr20:22079272-22079273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368940239	chr20:22079280-22079281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140085305	chr20:22079290-22079291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs193294425	chr20:22079305-22079306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184981898	chr20:22079329-22079330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531099784	chr20:22079340-22079341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551201942	chr20:22079379-22079380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548471557	chr20:22079390-22079391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78039021	chr20:22079394-22079395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535584787	chr20:22079466-22079467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548961356	chr20:22079467-22079468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565569140	chr20:22079516-22079517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6113516	chr20:22079520-22079521	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs557738272	chr20:22079546-22079547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577519297	chr20:22079587-22079588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs16983435	chr20:22079609-22079610	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs556776205	chr20:22079611-22079612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373140786	chr20:22079646-22079647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375881990	chr20:22079652-22079653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190321288	chr20:22079653-22079654	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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	22037309	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22078800-22080400	Enhancers	Fetal Stomach	stomach
2	chr20:22079600-22079800	Enhancers	Fetal Kidney	kidney
3	chr20:22082200-22082400	Enhancers	Fetal Stomach	stomach
4	chr20:22083400-22085400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr20:22089600-22089800	Enhancers	Placenta	Placenta
6	chr20:22090400-22090600	Enhancers	Placenta	Placenta
7	chr20:22107400-22108000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr20:22107600-22108000	ZNF genes & repeats	Gastric	stomach
9	chr20:22107800-22108000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr20:22125200-22126800	Enhancers	Dnd41	blood
11	chr20:22125400-22126000	Enhancers	Fetal Stomach	stomach
12	chr20:22135800-22136000	Enhancers	Esophagus	oesophagus
13	chr20:22138600-22138800	Weak transcription	Esophagus	oesophagus
14	chr20:22138800-22139000	ZNF genes & repeats	Esophagus	oesophagus
15	chr20:22139000-22139200	Enhancers	Esophagus	oesophagus
16	chr20:22140000-22141200	Enhancers	Fetal Stomach	stomach
17	chr20:22140000-22141200	Enhancers	Stomach Mucosa	stomach
18	chr20:22141000-22141200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr20:22141000-22141200	Enhancers	Fetal Muscle Leg	muscle
20	chr20:22141200-22142200	Weak transcription	Fetal Muscle Leg	muscle
21	chr20:22142200-22142400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
22	chr20:22142200-22142600	Enhancers	Fetal Muscle Leg	muscle
23	chr20:22142400-22142600	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr20:22142400-22144000	Enhancers	Primary hematopoietic stem cells	blood
25	chr20:22142800-22143400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr20:22143000-22143600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr20:22144600-22145200	Enhancers	Stomach Mucosa	stomach

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