Variant report

Variant	rs4700020
Chromosome Location	chr5:62076959-62076960
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:62076863-62076962	ProgFib	skin:	n/a	n/a
2	CTCF	chr5:62076871-62076960	MCF-7	breast:	n/a	n/a
3	RAD21	chr5:62076780-62077070	HepG2	liver:	n/a	n/a
4	CTCF	chr5:62076840-62076990	HRPEpiC	eye:	n/a	n/a
5	RAD21	chr5:62076739-62077029	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr5:62076731-62077019	HepG2	liver:	n/a	n/a
7	CTCF	chr5:62076726-62076996	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr5:62076767-62076977	HepG2	liver:	n/a	n/a
9	CTCF	chr5:62076860-62077010	K562	blood:	n/a	n/a
10	CTCF	chr5:62076820-62076970	AG10803	skin:	n/a	n/a
11	CTCF	chr5:62076895-62076963	Gliobla	brain:	n/a	n/a
12	CTCF	chr5:62076920-62077070	BJ	skin:	n/a	n/a
13	ZNF384	chr5:62076849-62077219	K562	blood:	n/a	n/a
14	CTCF	chr5:62076872-62076997	MCF-7	breast:	n/a	n/a
15	CTCF	chr5:62076857-62076992	K562	blood:	n/a	n/a
16	TEAD4	chr5:62076783-62077102	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr5:62076880-62077030	HBMEC	blood vessel:	n/a	n/a
18	CTCF	chr5:62076887-62076967	A549	lung:	n/a	n/a
19	CTCF	chr5:62076880-62077030	AG04449	skin:	n/a	n/a
20	CTCF	chr5:62076820-62077033	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr5:62076820-62076970	AG09309	skin:	n/a	n/a
22	CTCF	chr5:62076880-62077030	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr5:62076820-62076970	HepG2	liver:	n/a	n/a
24	RAD21	chr5:62076687-62077080	H1-hESC	embryonic stem cell:	n/a	n/a
25	RAD21	chr5:62076728-62077094	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr5:62076900-62077050	HAc	cerebellar:	n/a	n/a
27	ZNF143	chr5:62076693-62077072	H1-hESC	embryonic stem cell:	n/a	n/a
28	SMC3	chr5:62076850-62076992	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:62069461..62071077-chr5:62076501..62078748,2	K562	blood:
2	chr5:62071591..62073108-chr5:62074194..62077077,2	K562	blood:
3	chr5:62068406..62072262-chr5:62073628..62078748,5	K562	blood:

No data

Variant related genes	Relation type
ISCA1P1	TF binding region
ENSG00000217416	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10058718	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10069742	0.84[ASN][1000 genomes]
rs13169571	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13169696	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16891072	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16891077	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34422982	0.84[ASN][1000 genomes]
rs4700021	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700512	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700515	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4700529	0.84[ASN][1000 genomes]
rs4700530	0.84[ASN][1000 genomes]
rs58178498	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58972879	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60247396	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6869062	0.84[ASN][1000 genomes]
rs7717867	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763458	chr5:61852234-62157166	ZNF genes & repeats Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1022817	chr5:61853619-62149259	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv948334	chr5:61891622-62197219	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1022825	chr5:62025524-62874332	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1033401	chr5:62025524-62875830	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1035049	chr5:62027995-62875830	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv2757118	chr5:62031365-62102343	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv2759346	chr5:62031365-62102343	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv10706	chr5:62039724-62105414	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	nsv881738	chr5:62039960-62110910	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv881739	chr5:62042182-62110910	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv34525	chr5:62047644-62102344	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	nsv881740	chr5:62048009-62110910	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv2752896	chr5:62073197-62846973	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:62075000-62077800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:62075000-62079000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr5:62075000-62079200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:62075000-62079200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr5:62076200-62077000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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