Variant report

Variant	rs55648243
Chromosome Location	chr4:160520653-160520654
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11930436	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11940195	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11943362	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11943672	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11944945	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11945017	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56292641	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56336757	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57095745	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57412754	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57599247	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57767373	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58288302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58555248	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72975967	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72975973	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72975982	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72977811	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72977828	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72977836	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72977849	0.81[AMR][1000 genomes]
rs73859177	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73859189	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73862104	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73862107	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015469	chr4:160389277-160841619	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv537316	chr4:160389277-160841619	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv881205	chr4:160516090-160628006	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:160508600-160526800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:160516200-160526800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:160516800-160530000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:160519200-160521400	Active TSS	Fetal Kidney	kidney
5	chr4:160519600-160527600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:160519600-160528200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:160520000-160525800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:160520000-160527000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:160520400-160522000	Enhancers	Fetal Intestine Small	intestine
10	chr4:160520400-160526800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:160520600-160520800	Flanking Active TSS	Fetal Intestine Large	intestine

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