Variant report

Variant	rs60731128
Chromosome Location	chr15:45410841-45410842
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:45410007-45410993	HCT-116	colon:	n/a	n/a
2	RAD21	chr15:45410102-45410916	HCT-116	colon:	n/a	n/a
3	CTCF	chr15:45409814-45411247	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr15:45410189-45410865	K562	blood:	n/a	n/a
5	CTCF	chr15:45409855-45411092	HCT-116	colon:	n/a	n/a
6	CTCF	chr15:45410176-45410883	MCF-7	breast:	n/a	n/a
7	CTCF	chr15:45409979-45410878	A549	lung:	n/a	n/a
8	CTCF	chr15:45410171-45410857	MCF-7	breast:	n/a	n/a
9	CTCF	chr15:45410189-45410882	IMR90	lung:	n/a	n/a
10	RAD21	chr15:45409696-45410965	SK-N-SH	brain:	n/a	n/a
11	SMC3	chr15:45410069-45411085	SK-N-SH	brain:	n/a	chr15:45410957-45410965

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:45410026..45410941-chr15:45568756..45569289,2	MCF-7	breast:
2	chr15:45409132..45413033-chr15:45458233..45460669,3	MCF-7	breast:
3	chr15:45410580..45412317-chr15:45415759..45418660,2	K562	blood:
4	chr15:45409152..45412317-chr15:45414366..45418660,3	K562	blood:
5	chr15:45410636..45412600-chr15:45463074..45466007,2	K562	blood:

No data

Variant related genes	Relation type
DUOX2	TF binding region
ENSG00000140254	Chromatin interaction
ENSG00000259539	Chromatin interaction
ENSG00000138606	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10152927	1.00[EUR][1000 genomes]
rs10162724	1.00[EUR][1000 genomes]
rs10467911	1.00[EUR][1000 genomes]
rs10467978	1.00[EUR][1000 genomes]
rs11070446	1.00[EUR][1000 genomes]
rs11504668	1.00[EUR][1000 genomes]
rs12324044	1.00[EUR][1000 genomes]
rs13380419	1.00[EUR][1000 genomes]
rs16940825	1.00[EUR][1000 genomes]
rs16940836	1.00[EUR][1000 genomes]
rs16941118	1.00[EUR][1000 genomes]
rs16941127	1.00[EUR][1000 genomes]
rs16941245	1.00[EUR][1000 genomes]
rs16941355	1.00[EUR][1000 genomes]
rs16977579	1.00[EUR][1000 genomes]
rs17215605	1.00[EUR][1000 genomes]
rs2413770	1.00[EUR][1000 genomes]
rs2413779	1.00[EUR][1000 genomes]
rs2413781	1.00[EUR][1000 genomes]
rs2467831	1.00[EUR][1000 genomes]
rs28822532	1.00[EUR][1000 genomes]
rs28881324	1.00[EUR][1000 genomes]
rs3893997	1.00[EUR][1000 genomes]
rs56166527	1.00[EUR][1000 genomes]
rs56970738	1.00[EUR][1000 genomes]
rs57350749	1.00[EUR][1000 genomes]
rs58361817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60071040	1.00[EUR][1000 genomes]
rs61733393	1.00[EUR][1000 genomes]
rs6493133	1.00[EUR][1000 genomes]
rs7163607	1.00[EUR][1000 genomes]
rs7171901	1.00[EUR][1000 genomes]
rs73406323	1.00[EUR][1000 genomes]
rs73406325	1.00[EUR][1000 genomes]
rs73413510	1.00[EUR][1000 genomes]
rs73413518	1.00[EUR][1000 genomes]
rs73413524	1.00[EUR][1000 genomes]
rs73413539	1.00[EUR][1000 genomes]
rs73413553	1.00[EUR][1000 genomes]
rs73413567	1.00[EUR][1000 genomes]
rs73413599	1.00[EUR][1000 genomes]
rs73415960	1.00[EUR][1000 genomes]
rs8023604	1.00[EUR][1000 genomes]
rs8037964	1.00[EUR][1000 genomes]
rs8041776	1.00[EUR][1000 genomes]
rs9972443	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
4	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv427961	chr15:45338381-45491634	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv457124	chr15:45381998-45460422	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv569312	chr15:45381998-45460422	Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	esv1823029	chr15:45387102-45482245	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv904185	chr15:45394406-45428390	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv904186	chr15:45394406-45434493	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45410000-45411200	Enhancers	K562	blood
2	chr15:45410200-45411200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr15:45410200-45412200	Weak transcription	Esophagus	oesophagus
4	chr15:45410200-45418400	Weak transcription	Gastric	stomach
5	chr15:45410200-45421000	Weak transcription	Lung	lung
6	chr15:45410400-45411200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:45410400-45413600	Weak transcription	HUVEC	blood vessel
8	chr15:45410400-45413600	Weak transcription	Osteobl	bone
9	chr15:45410400-45414000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr15:45410400-45414000	Weak transcription	HMEC	breast
11	chr15:45410400-45421400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr15:45410600-45413200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr15:45410600-45413600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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