Variant report

Variant	nsv1062838
Chromosome Location	chr20:22048054-22128103
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:14)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:21789602..21790361-chr20:22086683..22087584,5	MCF-7	breast:
2	chr20:21776457..21777366-chr20:22087050..22087753,3	MCF-7	breast:
3	chr20:21699983..21700856-chr20:22086830..22087521,2	MCF-7	breast:
4	chr20:21773919..21776758-chr20:22060246..22062031,2	MCF-7	breast:
5	chr20:21788351..21791666-chr20:22086552..22088383,19	MCF-7	breast:
6	chr20:21775602..21776151-chr20:22086395..22086962,2	MCF-7	breast:
7	chr20:21699983..21700853-chr20:22086882..22087935,4	MCF-7	breast:
8	chr20:21748036..21748770-chr20:22086694..22087215,2	MCF-7	breast:
9	chr20:22067261..22069305-chr20:22072791..22075627,2	K562	blood:
10	chr20:22067261..22069305-chr20:22072791..22075627,2	K562	blood:
11	chr20:22079237..22079762-chr20:22293569..22294123,2	MCF-7	breast:
12	chr20:21776519..21777104-chr20:22086867..22087439,2	MCF-7	breast:
13	chr20:21620906..21621858-chr20:22086647..22087853,11	MCF-7	breast:
14	chr20:22086890..22087527-chr20:22228757..22229332,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAX1-3	chr20:22055139-22055316	NONHSAT078962
2	lnc-PAX1-3	chr20:22054025-22054104	NONHSAT078962
3	lnc-PAX1-3	chr20:22054026-22054104	XLOC_013482
4	lnc-PAX1-3	chr20:22055140-22055238	XLOC_013482
5	lnc-PAX1-3	chr20:22049077-22049326	XLOC_013482
6	lnc-PAX1-3	chr20:22049077-22049326	NONHSAT078963
7	lnc-PAX1-3	chr20:22055140-22055292	NONHSAT078963
8	lnc-PAX1-3	chr20:22054026-22054104	NONHSAT078963
9	lnc-PAX1-3	chr20:22049076-22049326	NONHSAT078962

No data

Extended variants
information (count: 539 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:539 , 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	rs79914137	chr20:22048073-22048074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528347807	chr20:22048126-22048127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551394709	chr20:22048134-22048135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142182436	chr20:22048280-22048281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536893947	chr20:22048343-22048344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551030043	chr20:22048377-22048378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544275100	chr20:22048411-22048412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12479468	chr20:22048413-22048414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs140279169	chr20:22048478-22048479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192420923	chr20:22048482-22048483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539312322	chr20:22048523-22048524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559035100	chr20:22048596-22048597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144049841	chr20:22048607-22048608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117005701	chr20:22048635-22048636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545482739	chr20:22048652-22048653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183428137	chr20:22048655-22048656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188823340	chr20:22048712-22048713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560588603	chr20:22048721-22048722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114705270	chr20:22048781-22048782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559350718	chr20:22048785-22048786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146478086	chr20:22048791-22048792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377202417	chr20:22048812-22048813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370003925	chr20:22048846-22048847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191647544	chr20:22048865-22048866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113398621	chr20:22048868-22048869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186680202	chr20:22048882-22048883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112457170	chr20:22048946-22048947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs80147641	chr20:22048955-22048956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530096591	chr20:22048987-22048988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140831204	chr20:22049026-22049027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543253008	chr20:22049041-22049042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566527097	chr20:22049054-22049055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561556629	chr20:22049088-22049089	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs576750168	chr20:22049099-22049100	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs372502678	chr20:22049120-22049121	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs559188854	chr20:22049123-22049124	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs569415610	chr20:22049154-22049155	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs112366349	chr20:22049159-22049160	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs6036029	chr20:22049177-22049178	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs191363111	chr20:22049224-22049225	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs542734887	chr20:22049225-22049226	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs553148964	chr20:22049226-22049227	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs572774186	chr20:22049265-22049266	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs6106446	chr20:22049281-22049282	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs7269572	chr20:22049300-22049301	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs370938543	chr20:22049301-22049302	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs564909515	chr20:22049353-22049354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6137529	chr20:22049398-22049399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12480891	chr20:22049405-22049406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530685364	chr20:22049440-22049441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

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

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22047200-22051200	Weak transcription	Colon Smooth Muscle	Colon
2	chr20:22050400-22052000	Enhancers	Fetal Muscle Leg	muscle
3	chr20:22051000-22051600	Enhancers	Fetal Muscle Trunk	muscle
4	chr20:22051000-22052800	Enhancers	Fetal Stomach	stomach
5	chr20:22051000-22053200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr20:22051200-22052000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr20:22051200-22052000	Enhancers	NHDF-Ad	bronchial
8	chr20:22051200-22053400	Enhancers	Colon Smooth Muscle	Colon
9	chr20:22051400-22051600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr20:22052200-22052400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr20:22052600-22053400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr20:22061200-22062200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr20:22078800-22080400	Enhancers	Fetal Stomach	stomach
14	chr20:22079600-22079800	Enhancers	Fetal Kidney	kidney
15	chr20:22082200-22082400	Enhancers	Fetal Stomach	stomach
16	chr20:22083400-22085400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr20:22089600-22089800	Enhancers	Placenta	Placenta
18	chr20:22090400-22090600	Enhancers	Placenta	Placenta
19	chr20:22107400-22108000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr20:22107600-22108000	ZNF genes & repeats	Gastric	stomach
21	chr20:22107800-22108000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr20:22125200-22126800	Enhancers	Dnd41	blood
23	chr20:22125400-22126000	Enhancers	Fetal Stomach	stomach

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