Variant report

Variant	rs55786960
Chromosome Location	chr8:110532157-110532158
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:110532140-110532290	GM12864	blood:	n/a	n/a
2	CTCF	chr8:110532100-110532250	MCF-7	breast:	n/a	n/a
3	CTCF	chr8:110532100-110532250	GM12870	blood:	n/a	n/a
4	CTCF	chr8:110532060-110532210	HCT-116	colon:	n/a	n/a
5	CTCF	chr8:110532140-110532290	GM12871	blood:	n/a	n/a
6	CTCF	chr8:110532080-110532230	GM12872	blood:	n/a	n/a
7	CTCF	chr8:110532121-110532219	MCF-7	breast:	n/a	n/a
8	CTCF	chr8:110532120-110532270	GM12875	blood:	n/a	n/a
9	CTCF	chr8:110532080-110532230	Caco-2	colon:	n/a	n/a
10	CTCF	chr8:110532140-110532290	BE2_C	brain:	n/a	n/a
11	EBF1	chr8:110532005-110532325	GM12878	blood:	n/a	chr8:110532197-110532208
12	EBF1	chr8:110532082-110532217	GM12878	blood:	n/a	chr8:110532197-110532208
13	RAD21	chr8:110532042-110532310	HepG2	liver:	n/a	chr8:110532176-110532183
14	CTCF	chr8:110532140-110532290	GM12873	blood:	n/a	n/a
15	CTCF	chr8:110532120-110532270	MCF-7	breast:	n/a	n/a
16	CTCF	chr8:110532080-110532230	GM12873	blood:	n/a	n/a
17	CTCF	chr8:110532060-110532210	GM12874	blood:	n/a	n/a
18	CTCF	chr8:110532080-110532258	HepG2	liver:	n/a	n/a
19	RAD21	chr8:110532093-110532198	Hela-S3	cervix:	n/a	chr8:110532176-110532183
20	CTCF	chr8:110532040-110532190	HEK293	kidney:	n/a	n/a
21	CTCF	chr8:110532060-110532210	GM12868	blood:	n/a	n/a
22	CTCF	chr8:110532123-110532231	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:110532017..110535509-chr8:110550359..110553902,4	K562	blood:
2	chr8:110531754..110534652-chr8:110551713..110553240,2	MCF-7	breast:
3	chr8:110531365..110533203-chr8:110533414..110535104,2	K562	blood:
4	chr8:110525756..110528832-chr8:110532009..110534427,3	K562	blood:
5	chr8:110531770..110532745-chr8:110563872..110564774,2	MCF-7	breast:
6	chr8:110530935..110534382-chr8:110534655..110537155,3	MCF-7	breast:

No data

Variant related genes	Relation type
PKHD1L1	TF binding region
ENSG00000147654	Chromatin interaction
ENSG00000205038	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10111721	0.87[EUR][1000 genomes]
rs11987659	0.87[EUR][1000 genomes]
rs16879338	0.81[AFR][1000 genomes]
rs2168677	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55881558	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56162009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56224859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57439661	1.00[EUR][1000 genomes]
rs57909958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61443777	1.00[EUR][1000 genomes]
rs73314998	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73700604	1.00[EUR][1000 genomes]
rs73700607	1.00[EUR][1000 genomes]
rs73700608	1.00[EUR][1000 genomes]
rs73700609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73700611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73700612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73700630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73700653	1.00[AMR][1000 genomes]
rs73700654	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700862	0.82[AFR][1000 genomes]
rs73700890	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73700891	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73700892	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73700893	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704012	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704013	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704019	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704020	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704043	1.00[EUR][1000 genomes]
rs73704045	1.00[EUR][1000 genomes]
rs9774677	1.00[EUR][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	nsv891281	chr8:110450092-110558622	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110526600-110532400	Weak transcription	K562	blood
2	chr8:110531000-110535000	Enhancers	Primary B cells from peripheral blood	blood
3	chr8:110531600-110534200	Enhancers	GM12878-XiMat	blood

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