Variant report

Variant	rs57520418
Chromosome Location	chr4:106207521-106207522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:106202811..106205088-chr4:106206953..106209065,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs57729291	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59479204	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59519484	0.83[AFR][1000 genomes]
rs60382101	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60834172	1.00[EUR][1000 genomes]
rs6811468	1.00[EUR][1000 genomes]
rs72952305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72952317	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72952324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72952331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72952338	0.96[AFR][1000 genomes]
rs72952343	1.00[EUR][1000 genomes]
rs72955116	1.00[EUR][1000 genomes]
rs72955127	1.00[EUR][1000 genomes]
rs72955137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72955179	0.86[AFR][1000 genomes]
rs72955180	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72955193	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72961197	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72961198	0.86[AFR][1000 genomes]
rs72961199	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72963007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72963014	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72963031	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72963032	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72963036	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72963038	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72963046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461609	chr4:105869548-106366209	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv470063	chr4:105869548-106366209	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv595007	chr4:105869548-106366209	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv879698	chr4:106155751-106309224	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106197400-106210200	Weak transcription	Small Intestine	intestine
2	chr4:106198000-106210600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:106198000-106210800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:106198600-106211800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:106202400-106211600	Weak transcription	HSMMtube	muscle

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