Variant report

Variant	rs6114487
Chromosome Location	chr20:24100764-24100765
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11696686	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11699743	0.82[CEU][hapmap]
rs1555286	0.86[ASN][1000 genomes]
rs2208012	0.82[EUR][1000 genomes]
rs2224232	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35815769	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6036644	0.80[EUR][1000 genomes]
rs6036645	0.80[EUR][1000 genomes]
rs6036653	0.82[EUR][1000 genomes]
rs6036654	0.82[EUR][1000 genomes]
rs6036664	0.81[EUR][1000 genomes]
rs6049389	0.80[EUR][1000 genomes]
rs6049390	0.80[EUR][1000 genomes]
rs6049394	0.80[EUR][1000 genomes]
rs6049403	0.81[EUR][1000 genomes]
rs6049416	0.82[EUR][1000 genomes]
rs6049417	0.81[EUR][1000 genomes]
rs6049419	0.81[EUR][1000 genomes]
rs6114488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6114489	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6132700	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6138203	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6138209	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6138214	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs721314	0.81[EUR][1000 genomes]
rs7262390	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs761863	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs761864	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs910775	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs910776	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs974785	0.82[EUR][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	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1056491	chr20:23955040-24105080	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3328348	chr20:24095746-24285830	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6114487	INSM1	cis	parietal	SCAN
rs6114487	CST5	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24098200-24100800	Enhancers	HUVEC	blood vessel
2	chr20:24098400-24100800	Enhancers	Fetal Thymus	thymus
3	chr20:24099200-24101000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr20:24099600-24102400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr20:24099800-24103400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr20:24100400-24101400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr20:24100600-24100800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr20:24100600-24100800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr20:24100600-24104000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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