Variant report

Variant	nsv515880
Chromosome Location	chr20:23731494-23740161
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr20:23736040-23736190	HBMEC	blood vessel:	n/a	chr20:23736138-23736151
2	CTCF	chr20:23732332-23732473	K562	blood:	n/a	n/a
3	CTCF	chr20:23735680-23735830	HCPEpiC	choroid plexus:	n/a	n/a
4	CTCF	chr20:23735500-23735650	NHDF-neo	bronchial:	n/a	n/a
5	CTCF	chr20:23736125-23736162	MCF-7	breast:	n/a	chr20:23736138-23736151
6	EP300	chr20:23737466-23737776	H1-hESC	embryonic stem cell:	n/a	n/a
7	FOS	chr20:23735690-23736217	HUVEC	blood vessel:	n/a	chr20:23735923-23735930 chr20:23736020-23736029 chr20:23735920-23735931 chr20:23735921-23735930 chr20:23735922-23735931 chr20:23735921-23735931
8	FOSL2	chr20:23731673-23731973	HepG2	liver:	n/a	chr20:23731839-23731847 chr20:23731837-23731849 chr20:23731835-23731846
9	FOSL2	chr20:23735756-23736098	HepG2	liver:	n/a	chr20:23735923-23735930 chr20:23736020-23736029 chr20:23735921-23735930 chr20:23735922-23735931 chr20:23735921-23735931
10	FOXA1	chr20:23737568-23737790	HepG2	liver:	n/a	n/a
11	FOXA1	chr20:23737481-23737821	HepG2	liver:	n/a	n/a
12	FOXA2	chr20:23736646-23737006	A549	lung:	n/a	n/a
13	FOXA2	chr20:23737462-23737828	A549	lung:	n/a	n/a
14	FOXA2	chr20:23737401-23737861	A549	lung:	n/a	n/a
15	FOXA2	chr20:23736587-23737012	A549	lung:	n/a	n/a
16	GATA2	chr20:23735794-23736242	HUVEC	blood vessel:	n/a	n/a
17	HDAC2	chr20:23737461-23737794	H1-hESC	embryonic stem cell:	n/a	n/a
18	HDAC2	chr20:23737541-23737716	H1-hESC	embryonic stem cell:	n/a	n/a
19	JUND	chr20:23731657-23731912	HepG2	liver:	n/a	chr20:23731839-23731847 chr20:23731837-23731849 chr20:23731835-23731846
20	JUND	chr20:23735793-23736118	A549	lung:	n/a	chr20:23735923-23735930 chr20:23736020-23736029 chr20:23735921-23735930 chr20:23735922-23735931 chr20:23735921-23735931
21	JUND	chr20:23737507-23737696	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr20:23737550-23737761	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr20:23737549-23737720	H1-hESC	embryonic stem cell:	n/a	n/a
24	MYC	chr20:23735867-23735943	MCF10A-Er-Src	breast:	n/a	n/a
25	MYC	chr20:23735794-23736096	HUVEC	blood vessel:	n/a	n/a
26	NANOG	chr20:23737507-23737762	H1-hESC	embryonic stem cell:	n/a	n/a
27	NANOG	chr20:23737453-23737746	H1-hESC	embryonic stem cell:	n/a	n/a
28	NR3C1	chr20:23737402-23737785	A549	lung:	n/a	n/a
29	POLR2A	chr20:23735615-23736230	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr20:23737524-23737750	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr20:23737447-23737790	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr20:23735702-23735962	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr20:23735707-23736185	HUVEC	blood vessel:	n/a	n/a
34	POU5F1	chr20:23737476-23737818	H1-hESC	embryonic stem cell:	n/a	n/a
35	SP1	chr20:23737483-23737796	H1-hESC	embryonic stem cell:	n/a	n/a
36	SP1	chr20:23737448-23737792	H1-hESC	embryonic stem cell:	n/a	n/a
37	TCF12	chr20:23737454-23737781	H1-hESC	embryonic stem cell:	n/a	n/a
38	TCF12	chr20:23737596-23737780	H1-hESC	embryonic stem cell:	n/a	n/a
39	TEAD4	chr20:23737511-23737830	H1-hESC	embryonic stem cell:	n/a	n/a
40	USF1	chr20:23733432-23733582	HepG2	liver:	n/a	n/a
41	ZNF263	chr20:23731781-23732069	HEK293-T-REx	kidney:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:23732873-23732923	AG09319	gingival:	n/a
2	chr20:23732595-23732645	AG09319	gingival:	n/a
3	chr20:23732873-23732923	HCF	heart:	n/a
4	chr20:23732595-23732645	ProgFib	skin:	n/a
5	chr20:23732595-23732645	GM06990	blood:	n/a
6	chr20:23732595-23732645	PANC-1	pancreas:	n/a
7	chr20:23732873-23732923	GM06990	blood:	n/a
8	chr20:23732873-23732923	ovcar-3	ovarian:	n/a
9	chr20:23732873-23732923	AoSMC	blood vessel:	n/a
10	chr20:23732873-23732923	SK-N-MC	brain:	n/a
11	chr20:23732873-23732923	T-47D	breast:	n/a
12	chr20:23732873-23732923	NH-A	brain:	n/a
13	chr20:23732873-23732923	HIPEpiC	eye:	n/a
14	chr20:23732873-23732923	Hepatocyte	liver:	n/a
15	chr20:23732873-23732923	HPAEpiC	pulmonary alveolar:	n/a
16	chr20:23732595-23732645	GM12891	blood:	n/a
17	chr20:23732873-23732923	SAEC	small airway:	n/a
18	chr20:23732595-23732645	LNCaP	prostate:	n/a
19	chr20:23732595-23732645	HCT-116	colon:	n/a
20	chr20:23732873-23732923	HepG2	liver:	n/a
21	chr20:23732873-23732923	NT2-D1	testis:	n/a
22	chr20:23732873-23732923	Jurkat	blood:	n/a
23	chr20:23732595-23732645	Caco-2	colon:	n/a
24	chr20:23732595-23732645	PrEC	prostate:	n/a
25	chr20:23732595-23732645	U87	brain:	n/a
26	chr20:23732873-23732923	GM12878	blood:	n/a
27	chr20:23732595-23732645	SK-N-MC	brain:	n/a
28	chr20:23732595-23732645	MCF10A-Er-Src	breast:	n/a
29	chr20:23732595-23732645	T-47D	breast:	n/a
30	chr20:23732595-23732645	SK-N-SH	brain:	n/a
31	chr20:23732873-23732923	AG09309	skin:	n/a
32	chr20:23732595-23732645	HL-60	blood:	n/a
33	chr20:23732873-23732923	H1-hESC	embryonic stem cell:	embryo
34	chr20:23732595-23732645	HCPEpiC	choroid plexus:	n/a
35	chr20:23732873-23732923	K562	blood:	n/a
36	chr20:23732873-23732923	U87	brain:	n/a
37	chr20:23732595-23732645	HPAEpiC	pulmonary alveolar:	n/a
38	chr20:23732595-23732645	NH-A	brain:	n/a
39	chr20:23732595-23732645	NB4	blood:	n/a
40	chr20:23732595-23732645	AG10803	skin:	n/a
41	chr20:23732873-23732923	ECC-1	luminal epithelium:	n/a
42	chr20:23732873-23732923	AG04449	skin:	fetal
43	chr20:23732873-23732923	HMEC	breast:	n/a
44	chr20:23732873-23732923	PFSK-1	brain:	n/a
45	chr20:23732595-23732645	PFSK-1	brain:	n/a
46	chr20:23732595-23732645	Hepatocyte	liver:	n/a
47	chr20:23732873-23732923	MCF10A-Er-Src	breast:	n/a
48	chr20:23732873-23732923	ProgFib	skin:	n/a
49	chr20:23732873-23732923	BJ	skin:	n/a
50	chr20:23732595-23732645	AoSMC	blood vessel:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CST8-5	chr20:23733871-23734300	NONHSAT079083
2	lnc-CST8-5	chr20:23733160-23733281	NONHSAT079083
3	lnc-CST8-5	chr20:23732376-23732473	NONHSAT079083

No data

Variant related genes	Relation type
CST1	TF binding region
CST1	CpG island

Extended variants
information (count: 538 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:538 , 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	rs6076122	chr20:23731494-23731495	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs201315915	chr20:23731503-23731504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1141013	chr20:23731512-23731513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374004963	chr20:23731517-23731518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571670080	chr20:23731518-23731519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530782485	chr20:23731523-23731524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550064441	chr20:23731524-23731525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569886383	chr20:23731526-23731527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201376709	chr20:23731527-23731528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555186339	chr20:23731535-23731536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565527258	chr20:23731546-23731547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534420407	chr20:23731551-23731552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6076123	chr20:23731560-23731561	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs577584309	chr20:23731585-23731586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113896553	chr20:23731589-23731590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
16	rs556897543	chr20:23731590-23731591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574300031	chr20:23731600-23731601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370685433	chr20:23731615-23731616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140676884	chr20:23731627-23731628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559999556	chr20:23731639-23731640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528650630	chr20:23731640-23731641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545539848	chr20:23731641-23731642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13045804	chr20:23731653-23731654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531019169	chr20:23731664-23731665	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs2070855	chr20:23731665-23731666	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs561328965	chr20:23731667-23731668	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs529213045	chr20:23731671-23731672	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs548823200	chr20:23731678-23731679	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs565562046	chr20:23731682-23731683	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs536277016	chr20:23731690-23731691	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs386813407	chr20:23731704-23731705	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs151261857	chr20:23731706-23731707	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs71333777	chr20:23731719-23731720	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs111818589	chr20:23731720-23731721	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs6083250	chr20:23731721-23731722	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
36	rs556724843	chr20:23731735-23731736	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs573542764	chr20:23731751-23731752	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs368695583	chr20:23731753-23731754	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs553672708	chr20:23731767-23731768	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs573490579	chr20:23731805-23731806	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs13036683	chr20:23731806-23731807	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs13036427	chr20:23731819-23731820	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs186237695	chr20:23731824-23731825	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs13036442	chr20:23731856-23731857	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs6049069	chr20:23731892-23731893	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs544683068	chr20:23731906-23731907	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs553723881	chr20:23731910-23731911	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs530054814	chr20:23731931-23731932	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs117791248	chr20:23731945-23731946	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs542677936	chr20:23731963-23731964	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23726800-23731800	Weak transcription	HUVEC	blood vessel
2	chr20:23728800-23735000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:23729600-23734400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr20:23730800-23731600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr20:23731000-23732000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr20:23731400-23731600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr20:23731600-23733600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr20:23731800-23732000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr20:23731800-23732200	Enhancers	HUVEC	blood vessel
10	chr20:23732000-23732800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr20:23732200-23734200	Weak transcription	HUVEC	blood vessel
12	chr20:23732600-23734000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr20:23732800-23733200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr20:23733200-23733600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr20:23733600-23737000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr20:23733800-23736600	Enhancers	NHDF-Ad	bronchial
17	chr20:23733800-23736800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr20:23734000-23736400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr20:23734000-23736400	Enhancers	Osteobl	bone
20	chr20:23734000-23736800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr20:23734200-23734400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr20:23734200-23736600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr20:23734200-23737000	Enhancers	HUVEC	blood vessel
24	chr20:23734200-23737600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr20:23734400-23734600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr20:23734400-23735400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr20:23734400-23736400	Enhancers	HSMMtube	muscle
28	chr20:23734400-23736600	Enhancers	NHLF	lung
29	chr20:23734600-23735000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr20:23734600-23736200	Enhancers	HSMM	muscle
31	chr20:23735000-23737000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr20:23735000-23737200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr20:23735200-23736200	Enhancers	Left Ventricle	heart
34	chr20:23735200-23736600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr20:23735400-23735600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr20:23735400-23735800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr20:23735400-23736400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr20:23735400-23736400	Enhancers	Adipose Nuclei	Adipose
39	chr20:23735400-23736600	Enhancers	NH-A	brain
40	chr20:23735400-23737600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
41	chr20:23735600-23735800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
42	chr20:23735600-23736400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
43	chr20:23735600-23736600	Enhancers	A549	lung
44	chr20:23735600-23737400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr20:23735800-23736000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
46	chr20:23736000-23736200	Enhancers	Lung	lung
47	chr20:23736000-23736400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
48	chr20:23736000-23737000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr20:23736000-23737000	Enhancers	Gastric	stomach
50	chr20:23736200-23736400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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