Variant report

Variant	nsv912815
Chromosome Location	chr20:21884693-21953649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:139)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:139 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr20:21914190-21914541	A549	lung:	n/a	n/a
2	CEBPB	chr20:21914204-21914530	K562	blood:	n/a	n/a
3	CEBPB	chr20:21921800-21922012	HepG2	liver:	n/a	n/a
4	CEBPB	chr20:21914191-21914527	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr20:21914283-21914463	HepG2	liver:	n/a	n/a
6	CEBPB	chr20:21914160-21914549	A549	lung:	n/a	n/a
7	CEBPB	chr20:21945588-21945696	H1-hESC	embryonic stem cell:	n/a	chr20:21945607-21945618
8	CEBPB	chr20:21914201-21914530	MCF-7	breast:	n/a	n/a
9	CEBPB	chr20:21909235-21909502	HepG2	liver:	n/a	chr20:21909382-21909393 chr20:21909381-21909394
10	CEBPB	chr20:21914190-21914550	IMR90	lung:	n/a	n/a
11	CEBPB	chr20:21914324-21914524	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr20:21945527-21945727	HepG2	liver:	n/a	chr20:21945607-21945618
13	CEBPB	chr20:21909316-21909470	A549	lung:	n/a	chr20:21909382-21909393 chr20:21909381-21909394
14	CEBPB	chr20:21921762-21921949	A549	lung:	n/a	n/a
15	CEBPB	chr20:21914182-21914552	HepG2	liver:	n/a	n/a
16	CEBPB	chr20:21936923-21937219	HepG2	liver:	n/a	chr20:21937071-21937082
17	CTCF	chr20:21949169-21949521	MCF-7	breast:	n/a	n/a
18	CTCF	chr20:21949220-21949370	AoAF	blood vessel:	n/a	n/a
19	CTCF	chr20:21949140-21949290	AoAF	blood vessel:	n/a	n/a
20	CTCF	chr20:21949210-21949347	LNCaP	prostate:	n/a	n/a
21	CTCF	chr20:21949166-21949453	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr20:21927660-21927745	GM10248	blood:	n/a	n/a
23	CTCF	chr20:21922960-21923110	HAc	cerebellar:	n/a	chr20:21923012-21923025
24	CTCF	chr20:21922960-21923110	HepG2	liver:	n/a	chr20:21923012-21923025
25	CTCF	chr20:21949220-21949370	HMF	breast:	n/a	n/a
26	CTCF	chr20:21949248-21949383	GM12878	blood:	n/a	n/a
27	CTCF	chr20:21949160-21949310	Caco-2	colon:	n/a	n/a
28	CTCF	chr20:21936140-21936290	Caco-2	colon:	n/a	n/a
29	CTCF	chr20:21949223-21949399	A549	lung:	n/a	n/a
30	CTCF	chr20:21949240-21949390	MCF-7	breast:	n/a	n/a
31	CTCF	chr20:21949200-21949350	SAEC	small airway:	n/a	n/a
32	CTCF	chr20:21912057-21912086	GM13976	blood:	n/a	n/a
33	CTCF	chr20:21949124-21949382	HepG2	liver:	n/a	n/a
34	CTCF	chr20:21890447-21890478	GM20000	blood:	n/a	n/a
35	CTCF	chr20:21949280-21949430	AG10803	skin:	n/a	n/a
36	CTCF	chr20:21949220-21949370	HEK293	kidney:	n/a	n/a
37	CTCF	chr20:21949288-21949365	Fibrobl	skin:	n/a	n/a
38	CTCF	chr20:21949238-21949375	MCF-7	breast:	n/a	n/a
39	CTCF	chr20:21949240-21949390	HCFaa	heart:	n/a	n/a
40	CTCF	chr20:21949220-21949370	MCF-7	breast:	n/a	n/a
41	CTCF	chr20:21949220-21949370	Caco-2	colon:	n/a	n/a
42	CTCF	chr20:21949220-21949370	HepG2	liver:	n/a	n/a
43	CTCF	chr20:21949212-21949386	MCF-7	breast:	n/a	n/a
44	CTCF	chr20:21907977-21907978	GM10266	blood:	n/a	n/a
45	CTCF	chr20:21949200-21949350	HMF	breast:	n/a	n/a
46	CTCF	chr20:21949160-21949310	HepG2	liver:	n/a	n/a
47	CTCF	chr20:21923020-21923170	A549	lung:	n/a	n/a
48	CTCF	chr20:21902340-21902490	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr20:21949229-21949353	HepG2	liver:	n/a	n/a
50	CTCF	chr20:21901620-21901770	GM12864	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:21949929..21950596-chr3:175390640..175391331,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAX1-7	chr20:21898909-21899421	NONHSAT078958
2	lnc-PAX1-2	chr20:21928285-21928340	XLOC_013481
3	lnc-PAX1-2	chr20:21950909-21951421	XLOC_013481

No data

Variant related genes	Relation type
ENSG00000238034	TF binding region

Extended variants
information (count: 1650 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:1650 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6137473	chr20:21884693-21884694	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565855016	chr20:21884765-21884766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550570041	chr20:21884774-21884775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376142635	chr20:21884775-21884776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79889070	chr20:21884794-21884795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6113413	chr20:21884832-21884833	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs577459473	chr20:21884857-21884858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6113414	chr20:21884872-21884873	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs375658289	chr20:21884924-21884925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183506262	chr20:21884932-21884933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573963934	chr20:21884950-21884951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542673159	chr20:21885000-21885001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559969516	chr20:21885025-21885026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573581212	chr20:21885040-21885041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6137474	chr20:21885065-21885066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545578633	chr20:21885071-21885072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188649620	chr20:21885099-21885100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566656263	chr20:21885156-21885157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78881348	chr20:21885172-21885173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369781229	chr20:21885176-21885177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192983962	chr20:21885191-21885192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563252800	chr20:21885205-21885206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528850898	chr20:21885223-21885224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373515936	chr20:21885256-21885257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143211072	chr20:21885258-21885259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4544515	chr20:21885311-21885312	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs534593634	chr20:21885319-21885320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183107940	chr20:21885322-21885323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148293729	chr20:21885361-21885362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141435272	chr20:21885369-21885370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567413128	chr20:21885377-21885378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187991821	chr20:21885436-21885437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574074145	chr20:21885437-21885438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76965191	chr20:21885439-21885440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1884588	chr20:21885500-21885501	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs553103075	chr20:21885508-21885509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573316223	chr20:21885538-21885539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545693475	chr20:21885550-21885551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113433850	chr20:21885560-21885561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76370233	chr20:21885599-21885600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1884589	chr20:21885619-21885620	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs563347140	chr20:21885643-21885644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558045016	chr20:21885732-21885733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112973143	chr20:21885751-21885752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1884590	chr20:21885805-21885806	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs558922296	chr20:21885823-21885824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554017546	chr20:21885849-21885850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528106137	chr20:21885852-21885853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370615473	chr20:21885870-21885871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375109132	chr20:21885881-21885882	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

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

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:21879400-21886400	Enhancers	Colon Smooth Muscle	Colon
2	chr20:21882200-21885000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr20:21885000-21885600	Enhancers	Rectal Smooth Muscle	rectum
4	chr20:21886400-21889400	Weak transcription	Colon Smooth Muscle	Colon
5	chr20:21889400-21889600	Enhancers	Colon Smooth Muscle	Colon
6	chr20:21897000-21897400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr20:21897000-21897400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr20:21897200-21897600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr20:21897400-21906000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr20:21900400-21901400	Enhancers	Rectal Smooth Muscle	rectum
11	chr20:21900400-21901800	Enhancers	Colon Smooth Muscle	Colon
12	chr20:21901400-21902000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr20:21902000-21902200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr20:21902000-21902200	Enhancers	Rectal Smooth Muscle	rectum
15	chr20:21902200-21904600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr20:21904600-21904800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr20:21904800-21918200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr20:21906000-21906200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr20:21916600-21917200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr20:21916600-21917400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr20:21916600-21917600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr20:21916800-21917600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr20:21916800-21920000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr20:21917000-21917400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr20:21917000-21917600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr20:21917000-21917600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr20:21917000-21917800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr20:21917000-21918600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr20:21917000-21918600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr20:21917000-21918600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr20:21917000-21919600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr20:21917200-21917600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr20:21917200-21918000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr20:21917200-21918400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr20:21917200-21919800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr20:21917400-21917800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr20:21917400-21917800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr20:21917400-21918000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr20:21917400-21918400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr20:21917400-21918800	Enhancers	H9 Cell Line	embryonic stem cell
41	chr20:21917600-21917800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr20:21917600-21918000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr20:21917600-21918000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr20:21917600-21918000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr20:21917800-21918200	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr20:21918000-21918200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr20:21918000-21918400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr20:21918000-21919600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr20:21918000-21919800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr20:21918000-21919800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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