Variant report

Variant	rs7118818
Chromosome Location	chr11:77723015-77723016
allele	A/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:2)
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	chr11:77723000-77723150	GM06990	blood:	n/a	n/a
2	CTCF	chr11:77722880-77723030	RPTEC	kidney:	n/a	n/a
3	CTCF	chr11:77722983-77723268	K562	blood:	n/a	n/a
4	CTCF	chr11:77722980-77723130	MCF-7	breast:	n/a	n/a
5	RAD21	chr11:77723007-77723379	ECC-1	luminal epithelium:	n/a	n/a
6	RAD21	chr11:77722991-77723208	SK-N-SH_RA	brain:	n/a	n/a
7	CTCF	chr11:77722968-77723171	GM12878	blood:	n/a	n/a
8	CTCF	chr11:77722972-77723324	K562	blood:	n/a	n/a
9	CTCF	chr11:77723000-77723150	GM12874	blood:	n/a	n/a
10	RAD21	chr11:77722935-77723445	HCT-116	colon:	n/a	n/a
11	CTCF	chr11:77723000-77723150	HepG2	liver:	n/a	n/a
12	RAD21	chr11:77722869-77723398	HCT-116	colon:	n/a	n/a
13	CTCF	chr11:77723000-77723150	HCPEpiC	choroid plexus:	n/a	n/a
14	CTCF	chr11:77723000-77723150	GM12875	blood:	n/a	n/a
15	CTCF	chr11:77722900-77723050	HCM	heart:	n/a	n/a
16	CTCF	chr11:77723000-77723150	HMF	breast:	n/a	n/a
17	CTCF	chr11:77723000-77723150	HPF	lung:	n/a	n/a
18	CTCF	chr11:77722882-77723481	HCT-116	colon:	n/a	n/a
19	RAD21	chr11:77722834-77723410	MCF-7	breast:	n/a	n/a
20	RAD21	chr11:77722951-77723405	MCF-7	breast:	n/a	n/a
21	CTCF	chr11:77723000-77723150	HPAF	blood vessel:	n/a	n/a
22	RAD21	chr11:77722945-77723361	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77722579..77723360-chr11:77756905..77757911,3	MCF-7	breast:
2	chr11:77722194..77724007-chr11:77747860..77749974,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254829	TF binding region
ENSG00000151364	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17136094	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3824865	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56360479	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72941378	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72941381	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72941390	0.85[ASN][1000 genomes]
rs72941392	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72943018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72943021	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73503585	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050891	chr11:77416645-77788002	Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1037292	chr11:77431583-77745934	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv541092	chr11:77431583-77745934	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949316	chr11:77454076-77769885	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv520740	chr11:77553638-77997936	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv1035753	chr11:77577384-77866386	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv541093	chr11:77577384-77866386	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77711600-77727000	Weak transcription	Pancreas	Pancrea
2	chr11:77719600-77733200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr11:77722200-77726400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:77722200-77727000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr11:77722200-77727800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:77722400-77727800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:77722400-77733400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:77722600-77726600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr11:77722800-77727000	Weak transcription	HepG2	liver

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