Variant report

Variant	rs57523212
Chromosome Location	chr4:80468296-80468297
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1595965	1.00[AMR][1000 genomes]
rs17003763	1.00[AMR][1000 genomes]
rs55654185	1.00[AMR][1000 genomes]
rs55792595	1.00[AMR][1000 genomes]
rs55859303	1.00[AMR][1000 genomes]
rs55872294	1.00[AMR][1000 genomes]
rs56186530	1.00[AMR][1000 genomes]
rs56329446	1.00[AMR][1000 genomes]
rs56688758	1.00[AMR][1000 genomes]
rs56843365	1.00[AMR][1000 genomes]
rs57053384	1.00[AMR][1000 genomes]
rs57446615	1.00[AMR][1000 genomes]
rs58663473	1.00[AMR][1000 genomes]
rs58905331	1.00[AMR][1000 genomes]
rs72872361	1.00[AMR][1000 genomes]
rs73828279	1.00[AMR][1000 genomes]
rs73828288	1.00[AMR][1000 genomes]
rs73828294	1.00[AMR][1000 genomes]
rs73830508	1.00[AMR][1000 genomes]
rs73830509	1.00[AMR][1000 genomes]
rs73830513	1.00[AMR][1000 genomes]
rs73830515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830518	1.00[AMR][1000 genomes]
rs73830521	1.00[AMR][1000 genomes]
rs73830527	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830531	1.00[AMR][1000 genomes]
rs73830533	1.00[AMR][1000 genomes]
rs73830535	1.00[AMR][1000 genomes]
rs73830536	1.00[AMR][1000 genomes]
rs73830537	1.00[AMR][1000 genomes]
rs73830538	1.00[AMR][1000 genomes]
rs73830539	1.00[AMR][1000 genomes]
rs73830540	1.00[AMR][1000 genomes]
rs73830543	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999174	chr4:80212935-80512356	Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv879506	chr4:80316417-80604625	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv879507	chr4:80365765-80552199	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv879508	chr4:80398708-80552199	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv829980	chr4:80442108-80468775	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	lncRNA	n/a	inside rSNPs	diseases
6	nsv1002031	chr4:80459528-80759113	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80465000-80478200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:80467600-80485600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:80467800-80468400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr4:80468200-80468400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
5	chr4:80468200-80468800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr4:80468200-80469200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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