Variant report

Variant	rs30293
Chromosome Location	chr5:111462207-111462208
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111461828..111463789-chr5:111496552..111498764,3	K562	blood:

Variant related genes	Relation type
ENSG00000224032	Chromatin interaction
ENSG00000238363	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs149385	1.00[EUR][1000 genomes]
rs17134157	0.87[EUR][1000 genomes]
rs17319480	0.87[EUR][1000 genomes]
rs17319543	0.87[EUR][1000 genomes]
rs173584	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs30284	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs30289	1.00[EUR][1000 genomes]
rs30290	1.00[EUR][1000 genomes]
rs30291	1.00[EUR][1000 genomes]
rs30292	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs376888	1.00[EUR][1000 genomes]
rs42484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs459921	1.00[EUR][1000 genomes]
rs466009	1.00[EUR][1000 genomes]
rs56071484	0.87[EUR][1000 genomes]
rs56198310	0.87[EUR][1000 genomes]
rs56369914	0.86[EUR][1000 genomes]
rs56731080	0.86[EUR][1000 genomes]
rs6898226	1.00[AFR][1000 genomes]
rs922430	0.87[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	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	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
5	nsv599370	chr5:111419303-111485372	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	3 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	chr5:111461800-111462400	Enhancers	Fetal Brain Female	brain
2	chr5:111461800-111464000	Weak transcription	Fetal Muscle Leg	muscle

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