Variant report

Variant	rs10447377
Chromosome Location	chr6:54486278-54486279
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:109)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:109 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:54486201-54486344	ProgFib	skin:	n/a	n/a
2	CTCF	chr6:54486180-54486330	GM12871	blood:	n/a	n/a
3	CTCF	chr6:54486200-54486350	HPAF	blood vessel:	n/a	n/a
4	CTCF	chr6:54486230-54486313	GM20000	blood:	n/a	n/a
5	CTCF	chr6:54486220-54486370	GM12875	blood:	n/a	n/a
6	CTCF	chr6:54486063-54486416	MCF-7	breast:	n/a	n/a
7	CTCF	chr6:54486139-54486405	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr6:54486200-54486350	HEEpiC	esophagus:	n/a	n/a
9	CTCF	chr6:54486200-54486350	AG10803	skin:	n/a	n/a
10	CTCF	chr6:54486224-54486293	GM19238	blood:	n/a	n/a
11	CTCF	chr6:54486160-54486310	GM12878	blood:	n/a	n/a
12	CTCF	chr6:54486180-54486373	LNCaP	prostate:	n/a	n/a
13	ZNF143	chr6:54486205-54486416	GM12878	blood:	n/a	n/a
14	CTCF	chr6:54486160-54486310	GM12872	blood:	n/a	n/a
15	CTCF	chr6:54486180-54486330	HL-60	blood:	n/a	n/a
16	RAD21	chr6:54486156-54486342	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr6:54486115-54486381	MCF-7	breast:	n/a	n/a
18	CTCF	chr6:54486202-54486340	Pancreas_OC	pancreas:	n/a	n/a
19	CTCF	chr6:54486137-54486326	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr6:54486200-54486350	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr6:54486180-54486330	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr6:54486200-54486350	AG04450	lung:	n/a	n/a
23	CTCF	chr6:54486220-54486370	GM12868	blood:	n/a	n/a
24	RAD21	chr6:54486069-54486508	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr6:54486200-54486350	SAEC	small airway:	n/a	n/a
26	CTCF	chr6:54486200-54486350	MCF-7	breast:	n/a	n/a
27	CTCF	chr6:54486200-54486350	GM12873	blood:	n/a	n/a
28	CTCF	chr6:54486180-54486330	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr6:54486200-54486350	AG09309	skin:	n/a	n/a
30	CTCF	chr6:54486174-54486471	HCT-116	colon:	n/a	n/a
31	CTCF	chr6:54486120-54486330	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr6:54486180-54486330	HRE	kidney:	n/a	n/a
33	CTCF	chr6:54486169-54486367	MCF-7	breast:	n/a	n/a
34	CTCF	chr6:54486200-54486350	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr6:54486220-54486370	HRE	kidney:	n/a	n/a
36	CTCF	chr6:54486220-54486370	GM12869	blood:	n/a	n/a
37	RAD21	chr6:54486150-54486500	HCT-116	colon:	n/a	n/a
38	RAD21	chr6:54486109-54486544	HCT-116	colon:	n/a	n/a
39	CTCF	chr6:54486160-54486310	HCT-116	colon:	n/a	n/a
40	CTCF	chr6:54486180-54486330	GM12873	blood:	n/a	n/a
41	RAD21	chr6:54486096-54486507	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr6:54486200-54486350	GM06990	blood:	n/a	n/a
43	CTCF	chr6:54486124-54486453	IMR90	lung:	n/a	n/a
44	CTCF	chr6:54486183-54486364	GM12878	blood:	n/a	n/a
45	CTCF	chr6:54486120-54486390	GM12868	blood:	n/a	n/a
46	CTCF	chr6:54486180-54486330	AG04449	skin:	n/a	n/a
47	CTCF	chr6:54486140-54486290	AG09309	skin:	n/a	n/a
48	RFX5	chr6:54486111-54486418	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr6:54486160-54486383	MCF-7	breast:	n/a	n/a
50	CTCF	chr6:54486180-54486330	AG10803	skin:	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: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10807475	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10948830	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10948842	0.81[ASN][1000 genomes]
rs11757171	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]
rs11964037	0.82[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];0.86[ASN][1000 genomes]
rs12215844	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13193002	1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs1359009	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1911508	0.84[ASN][1000 genomes]
rs2089411	0.83[ASN][1000 genomes]
rs2174735	0.82[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];0.84[ASN][1000 genomes]
rs6908136	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6918290	0.80[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];0.84[ASN][1000 genomes]
rs9464114	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464116	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9474940	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9474943	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9474944	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9474965	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9474973	0.89[CHB][hapmap];0.84[ASN][1000 genomes]
rs9474977	0.82[ASN][1000 genomes]
rs9474987	0.82[ASN][1000 genomes]
rs9474991	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs9885668	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[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];0.81[MKK][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[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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