Variant report

Variant	rs791617
Chromosome Location	chr7:127879509-127879510
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr7:127879033-127879665	U2OS	brain:	n/a	n/a
2	SETDB1	chr7:127879161-127879531	K562	blood:	n/a	n/a
3	TRIM28	chr7:127879146-127879511	K562	blood:	n/a	n/a
4	CBX3	chr7:127879018-127879517	K562	blood:	n/a	n/a
5	TRIM28	chr7:127879055-127879543	K562	blood:	n/a	n/a
6	CBX3	chr7:127878910-127879546	K562	blood:	n/a	n/a
7	KAP1	chr7:127878894-127879546	K562	blood:	n/a	n/a

Variant related genes	Relation type
LEP	TF binding region

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10243710	0.86[EUR][1000 genomes]
rs10264361	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10276311	0.87[EUR][1000 genomes]
rs1376349	0.89[EUR][1000 genomes]
rs2021808	0.89[EUR][1000 genomes]
rs2060713	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2122627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2167271	1.00[EUR][1000 genomes]
rs28954080	1.00[EUR][1000 genomes]
rs28954101	1.00[EUR][1000 genomes]
rs4236625	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4731424	0.88[EUR][1000 genomes]
rs4731427	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6976458	0.82[EUR][1000 genomes]
rs7788818	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7795794	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs791603	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs791604	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs791606	0.84[EUR][1000 genomes]
rs791607	0.86[EUR][1000 genomes]
rs791608	0.86[EUR][1000 genomes]
rs791609	0.86[EUR][1000 genomes]
rs791616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs791620	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv33413	chr7:127800064-127929303	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv5945	chr7:127852004-127880768	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv429811	chr7:127857891-127889049	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127878000-127879800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:127878000-127881600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
3	chr7:127878000-127881600	ZNF genes & repeats	Placenta	Placenta
4	chr7:127878600-127887400	Weak transcription	Right Atrium	heart

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