Variant report

Variant	rs11757171
Chromosome Location	chr6:54486150-54486151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:54486100-54486250	HAc	cerebellar:	n/a	n/a
2	CTCF	chr6:54486063-54486416	MCF-7	breast:	n/a	n/a
3	CTCF	chr6:54486139-54486405	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr6:54486115-54486381	MCF-7	breast:	n/a	n/a
5	CTCF	chr6:54486137-54486326	SK-N-SH_RA	brain:	n/a	n/a
6	RAD21	chr6:54486069-54486508	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr6:54486120-54486330	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr6:54486150-54486500	HCT-116	colon:	n/a	n/a
9	RAD21	chr6:54486109-54486544	HCT-116	colon:	n/a	n/a
10	RAD21	chr6:54486096-54486507	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr6:54486124-54486453	IMR90	lung:	n/a	n/a
12	CTCF	chr6:54486120-54486390	GM12868	blood:	n/a	n/a
13	CTCF	chr6:54486140-54486290	AG09309	skin:	n/a	n/a
14	RFX5	chr6:54486111-54486418	Hela-S3	cervix:	n/a	n/a
15	RAD21	chr6:54486115-54486388	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr6:54486096-54486460	GM12878	blood:	n/a	n/a
17	RAD21	chr6:54486042-54486471	MCF-7	breast:	n/a	n/a
18	CTCF	chr6:54486120-54486270	NHLF	lung:	n/a	n/a
19	RAD21	chr6:54486136-54486394	SK-N-SH_RA	brain:	n/a	n/a
20	RAD21	chr6:54486031-54486414	ECC-1	luminal epithelium:	n/a	n/a
21	RAD21	chr6:54486116-54486456	H1-hESC	embryonic stem cell:	n/a	n/a
22	RAD21	chr6:54486148-54486449	IMR90	lung:	n/a	n/a
23	CTCF	chr6:54486140-54486290	GM12872	blood:	n/a	n/a
24	SMC3	chr6:54486092-54486480	Hela-S3	cervix:	n/a	chr6:54486271-54486285
25	CTCF	chr6:54485959-54486589	A549	lung:	n/a	n/a
26	CTCF	chr6:54486040-54486190	HFF	foreskin:	n/a	n/a
27	SMC3	chr6:54486127-54486423	GM12878	blood:	n/a	chr6:54486271-54486285
28	RAD21	chr6:54486034-54486528	ECC-1	luminal epithelium:	n/a	n/a
29	CTCF	chr6:54486120-54486270	HFF-Myc	foreskin:	n/a	n/a
30	RAD21	chr6:54485966-54486465	MCF-7	breast:	n/a	n/a
31	CTCF	chr6:54486140-54486290	GM12869	blood:	n/a	n/a
32	CTCF	chr6:54486120-54486270	GM12872	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:54483454..54486448-chr6:54709404..54710933,2	MCF-7	breast:
2	chr6:54485033..54487186-chr6:54562620..54564688,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000220773	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10447377	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10807475	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10948830	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11964037	0.80[ASN][1000 genomes]
rs11967781	0.83[CEU][hapmap]
rs12208090	0.81[GIH][hapmap]
rs12211545	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12215844	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13193002	1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs1359009	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1911508	0.82[ASN][1000 genomes]
rs2089411	0.81[ASN][1000 genomes]
rs2174735	0.80[ASN][1000 genomes]
rs6459021	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.83[GIH][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs6908136	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs925057	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9464114	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9464116	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9474940	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9474943	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9474944	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9474965	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9474973	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs9474977	0.80[ASN][1000 genomes]
rs9474987	0.80[ASN][1000 genomes]
rs9474991	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs9885668	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs995951	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.93[JPT][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427757	chr6:54296552-54507210	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54480000-54489600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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