Variant report

Variant	rs696829
Chromosome Location	chr5:111401903-111401904
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111398563..111400381-chr5:111401714..111404187,2	K562	blood:
2	chr5:111400696..111402728-chr5:111496476..111498260,2	K562	blood:

Variant related genes	Relation type
ENSG00000224032	Chromatin interaction
ENSG00000238363	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs152291	0.97[EUR][1000 genomes]
rs154082	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs154083	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs154092	0.94[EUR][1000 genomes]
rs154142	0.92[EUR][1000 genomes]
rs154143	0.97[EUR][1000 genomes]
rs1644466	0.94[EUR][1000 genomes]
rs1677320	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs168876	0.94[EUR][1000 genomes]
rs171738	0.94[EUR][1000 genomes]
rs173583	0.94[EUR][1000 genomes]
rs173900	0.87[EUR][1000 genomes]
rs185345	0.81[EUR][1000 genomes]
rs248745	0.94[EUR][1000 genomes]
rs248746	0.94[EUR][1000 genomes]
rs248747	0.94[EUR][1000 genomes]
rs256036	0.94[EUR][1000 genomes]
rs256037	0.92[EUR][1000 genomes]
rs256046	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs26437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs26571	0.94[EUR][1000 genomes]
rs26572	0.94[EUR][1000 genomes]
rs26573	0.94[EUR][1000 genomes]
rs2913546	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs388450	0.94[EUR][1000 genomes]
rs458532	0.94[EUR][1000 genomes]
rs55684472	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55954860	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56079425	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs698403	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72786287	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72786291	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72786292	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72786301	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72788210	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72788217	0.84[AMR][1000 genomes];0.97[EUR][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	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2829846	chr5:111341445-111435769	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	nsv1025678	chr5:111365866-111417198	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv882713	chr5:111399885-111445356	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111400200-111402600	Enhancers	Fetal Lung	lung
2	chr5:111401600-111402000	Weak transcription	Fetal Stomach	stomach

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