Variant report

Variant	nsv964415
Chromosome Location	chr20:23801700-23809333
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr20:23806035-23806099	GM13976	blood:	n/a	n/a
2	CTCF	chr20:23805880-23806030	GM12873	blood:	n/a	n/a
3	CTCF	chr20:23805801-23806056	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr20:23805960-23806110	SK-N-SH_RA	brain:	n/a	n/a
5	CTCF	chr20:23803755-23803809	GM10266	blood:	n/a	n/a
6	CTCF	chr20:23805971-23806035	MCF-7	breast:	n/a	n/a
7	CTCF	chr20:23805040-23805190	GM12866	blood:	n/a	n/a
8	CTCF	chr20:23805840-23805990	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr20:23805957-23806035	MCF-7	breast:	n/a	n/a
10	CTCF	chr20:23805952-23805993	K562	blood:	n/a	n/a
11	CTCF	chr20:23805913-23806106	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr20:23805840-23805990	HEK293	kidney:	n/a	n/a
13	CTCF	chr20:23806103-23806106	GM13976	blood:	n/a	n/a
14	CTCF	chr20:23805840-23805990	WERI-Rb-1	eye:	n/a	n/a
15	CTCF	chr20:23805840-23805990	K562	blood:	n/a	n/a
16	CTCF	chr20:23805840-23805990	GM12874	blood:	n/a	n/a
17	CTCF	chr20:23805800-23805950	HEK293	kidney:	n/a	n/a
18	CTCF	chr20:23805880-23806030	HRE	kidney:	n/a	n/a
19	CTCF	chr20:23805840-23806099	K562	blood:	n/a	n/a
20	CTCF	chr20:23805860-23806010	GM12870	blood:	n/a	n/a
21	CTCF	chr20:23805758-23805774	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr20:23805840-23805990	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr20:23805840-23805990	HepG2	liver:	n/a	n/a
24	CTCF	chr20:23805758-23806140	K562	blood:	n/a	n/a
25	CTCF	chr20:23805983-23806110	LNCaP	prostate:	n/a	n/a
26	FOS	chr20:23801754-23801952	HUVEC	blood vessel:	n/a	chr20:23801812-23801823
27	GATA3	chr20:23807224-23807319	MCF-7	breast:	n/a	n/a
28	KAP1	chr20:23807048-23807573	U2OS	brain:	n/a	n/a
29	MAZ	chr20:23808205-23808222	HepG2	liver:	n/a	n/a
30	NR3C1	chr20:23804544-23804851	A549	lung:	n/a	n/a
31	POLR2A	chr20:23807391-23807397	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr20:23805741-23805835	MCF-7	breast:	n/a	n/a
33	SPI1	chr20:23804610-23804875	HL-60	blood:	n/a	chr20:23804783-23804796 chr20:23804786-23804795 chr20:23804784-23804797
34	ZNF263	chr20:23807255-23807804	HEK293-T-REx	kidney:	n/a	chr20:23807564-23807573 chr20:23807444-23807453 chr20:23807550-23807571 chr20:23807546-23807555
35	ZNF263	chr20:23806604-23807010	HEK293-T-REx	kidney:	n/a	chr20:23806819-23806828

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:23807359-23807409	NH-A	brain:	n/a
2	chr20:23806999-23807049	K562	blood:	n/a
3	chr20:23807778-23807828	GM12878	blood:	n/a
4	chr20:23806999-23807049	NT2-D1	testis:	n/a
5	chr20:23807359-23807409	SAEC	small airway:	n/a
6	chr20:23806999-23807049	NHDF-neo	bronchial:	n/a
7	chr20:23807778-23807828	GM12891	blood:	n/a
8	chr20:23807306-23807356	AG09319	gingival:	n/a
9	chr20:23807778-23807828	ProgFib	skin:	n/a
10	chr20:23807736-23807786	HEK293	kidney:	embryo
11	chr20:23807778-23807828	SAEC	small airway:	n/a
12	chr20:23807359-23807409	HIPEpiC	eye:	n/a
13	chr20:23807736-23807786	HNPCEpiC	eye:	n/a
14	chr20:23807736-23807786	NB4	blood:	n/a
15	chr20:23806999-23807049	HEK293	kidney:	embryo
16	chr20:23807359-23807409	MCF-7	breast:	n/a
17	chr20:23807778-23807828	SK-N-SH	brain:	n/a
18	chr20:23807736-23807786	GM06990	blood:	n/a
19	chr20:23807778-23807828	GM12892	blood:	n/a
20	chr20:23806999-23807049	HNPCEpiC	eye:	n/a
21	chr20:23807306-23807356	CMK	blood:	n/a
22	chr20:23807736-23807786	ECC-1	luminal epithelium:	n/a
23	chr20:23807778-23807828	HAEpiC	amniotic membrane:	n/a
24	chr20:23807736-23807786	RPTEC	kidney:	n/a
25	chr20:23807306-23807356	Jurkat	blood:	n/a
26	chr20:23806999-23807049	HRE	kidney:	n/a
27	chr20:23807778-23807828	CMK	blood:	n/a
28	chr20:23807359-23807409	GM12891	blood:	n/a
29	chr20:23807306-23807356	HAEpiC	amniotic membrane:	n/a
30	chr20:23807359-23807409	BJ	skin:	n/a
31	chr20:23807359-23807409	HCM	heart:	n/a
32	chr20:23806999-23807049	Hela-S3	cervix:	n/a
33	chr20:23807306-23807356	A549	lung:	n/a
34	chr20:23806999-23807049	CMK	blood:	n/a
35	chr20:23807359-23807409	MCF10A-Er-Src	breast:	n/a
36	chr20:23806999-23807049	HepG2	liver:	n/a
37	chr20:23807736-23807786	PANC-1	pancreas:	n/a
38	chr20:23806999-23807049	GM06990	blood:	n/a
39	chr20:23807306-23807356	ECC-1	luminal epithelium:	n/a
40	chr20:23807778-23807828	HNPCEpiC	eye:	n/a
41	chr20:23806999-23807049	ProgFib	skin:	n/a
42	chr20:23807359-23807409	GM06990	blood:	n/a
43	chr20:23807306-23807356	GM06990	blood:	n/a
44	chr20:23806999-23807049	HRPEpiC	eye:	n/a
45	chr20:23807306-23807356	Caco-2	colon:	n/a
46	chr20:23807736-23807786	HIPEpiC	eye:	n/a
47	chr20:23807736-23807786	SK-N-MC	brain:	n/a
48	chr20:23807359-23807409	NHBE	bronchial:	n/a
49	chr20:23807736-23807786	SAEC	small airway:	n/a
50	chr20:23807306-23807356	HL-60	blood:	n/a

No data

Variant related genes	Relation type
CST2	TF binding region
CST2	CpG island

Extended variants
information (count: 583 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:583 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563882826	chr20:23801725-23801726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143373338	chr20:23801730-23801731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114013857	chr20:23801735-23801736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563275168	chr20:23801746-23801747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6076132	chr20:23801747-23801748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186865393	chr20:23801748-23801749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549668662	chr20:23801752-23801753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566202832	chr20:23801755-23801756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528700053	chr20:23801804-23801805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552001109	chr20:23801839-23801840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571804174	chr20:23801840-23801841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188944203	chr20:23801841-23801842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs71332623	chr20:23801848-23801849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530438189	chr20:23801850-23801851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4533555	chr20:23801859-23801860	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs368872450	chr20:23801889-23801890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146282774	chr20:23801905-23801906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201435746	chr20:23801917-23801918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377353552	chr20:23801920-23801921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368840628	chr20:23801927-23801928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115132948	chr20:23801945-23801946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76528198	chr20:23801946-23801947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs76909840	chr20:23801947-23801948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6106728	chr20:23801950-23801951	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572002770	chr20:23801959-23801960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540870986	chr20:23801984-23801985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557516771	chr20:23802008-23802009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181283772	chr20:23802031-23802032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543528429	chr20:23802041-23802042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6114315	chr20:23802073-23802074	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs6083274	chr20:23802092-23802093	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs139387997	chr20:23802093-23802094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532032951	chr20:23802095-23802096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547200375	chr20:23802115-23802116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149988754	chr20:23802128-23802129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7351373	chr20:23802150-23802151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528779615	chr20:23802152-23802153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185875613	chr20:23802154-23802155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571889896	chr20:23802155-23802156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531091418	chr20:23802175-23802176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565704772	chr20:23802188-23802189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551060983	chr20:23802196-23802197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567604401	chr20:23802217-23802218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536695393	chr20:23802229-23802230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6132671	chr20:23802232-23802233	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs554549256	chr20:23802233-23802234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565674565	chr20:23802281-23802282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374968036	chr20:23802285-23802286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145159533	chr20:23802287-23802288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545379784	chr20:23802288-23802289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
small cell lung cancer	17426248	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23800600-23802400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr20:23801200-23802000	Enhancers	NHDF-Ad	bronchial
3	chr20:23801200-23802200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr20:23801400-23806800	Enhancers	Fetal Thymus	thymus
5	chr20:23802000-23806800	Weak transcription	NHDF-Ad	bronchial
6	chr20:23803800-23804200	Enhancers	Stomach Smooth Muscle	stomach
7	chr20:23803800-23805400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr20:23804000-23804200	Enhancers	Brain Anterior Caudate	brain
9	chr20:23804000-23804200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr20:23804000-23804400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:23804000-23804400	Bivalent Enhancer	Fetal Stomach	stomach
12	chr20:23804000-23804600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr20:23804000-23804600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr20:23804000-23804600	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr20:23804000-23804600	Enhancers	Fetal Muscle Trunk	muscle
16	chr20:23804000-23804800	Enhancers	Dnd41	blood
17	chr20:23804000-23805000	Enhancers	Fetal Muscle Leg	muscle
18	chr20:23804000-23805000	Enhancers	Lung	lung
19	chr20:23804200-23804400	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr20:23804200-23804600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr20:23804200-23804600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr20:23804200-23804800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr20:23804400-23805200	Enhancers	Fetal Stomach	stomach
24	chr20:23804400-23807400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr20:23804600-23806400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr20:23804600-23806800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr20:23804600-23806800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr20:23804800-23805200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr20:23804800-23807400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr20:23805000-23806800	Weak transcription	Fetal Muscle Leg	muscle
31	chr20:23805200-23805400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr20:23805400-23806400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr20:23805400-23807000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr20:23806400-23807600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr20:23806400-23807800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr20:23806400-23807800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr20:23806600-23807400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr20:23806600-23807400	Enhancers	NHLF	lung
39	chr20:23806600-23807800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr20:23806800-23807400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr20:23806800-23807400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr20:23806800-23807400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr20:23806800-23807400	Enhancers	Fetal Muscle Leg	muscle
44	chr20:23806800-23807800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr20:23806800-23807800	Enhancers	NHDF-Ad	bronchial
46	chr20:23806800-23808000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr20:23806800-23808000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr20:23807000-23807400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr20:23807000-23807400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr20:23807000-23807400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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