Variant report

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12498988	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12498992	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12499072	0.89[ASN][1000 genomes]
rs12499880	0.82[ASN][1000 genomes]
rs12507650	0.83[ASN][1000 genomes]
rs12512503	0.83[ASN][1000 genomes]
rs17087265	0.84[ASN][1000 genomes]
rs35586425	0.89[ASN][1000 genomes]
rs4355453	0.81[ASN][1000 genomes]
rs61598699	0.83[ASN][1000 genomes]
rs6818002	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6848165	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7660153	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7662910	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7663050	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7663287	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7665897	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7666032	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7667267	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7683720	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7696789	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs899633	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs899634	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv523211	chr4:57749080-57761417	Enhancers Active TSS Flanking Active TSS Weak transcription	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57750600-57751000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:57750600-57751000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:57750600-57751000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:57750600-57751200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr4:57750600-57751200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr4:57750600-57751200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:57750600-57751200	Enhancers	Esophagus	oesophagus
8	chr4:57750600-57751400	Enhancers	Fetal Thymus	thymus
9	chr4:57750800-57751200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr4:57750800-57751200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:57750800-57751200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:57750800-57751200	Active TSS	Fetal Intestine Large	intestine
13	chr4:57750800-57751200	Active TSS	Fetal Intestine Small	intestine
14	chr4:57750800-57751200	Flanking Active TSS	Pancreas	Pancrea

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