Variant report

Variant	rs6049390
Chromosome Location	chr20:24077481-24077482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1006194	0.84[EUR][1000 genomes]
rs2005624	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2013710	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2208012	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6036640	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036644	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036645	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036650	0.97[EUR][1000 genomes]
rs6036653	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6036654	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6036664	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6049389	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049392	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049394	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6049403	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6049416	0.95[EUR][1000 genomes]
rs6049417	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6049419	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6114487	0.80[EUR][1000 genomes]
rs6114488	0.80[EUR][1000 genomes]
rs721314	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs761864	0.82[EUR][1000 genomes]
rs761865	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs858140	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs858141	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs858144	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs858145	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs910775	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs974784	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs974785	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24075000-24078400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:24075000-24081000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr20:24076000-24078000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr20:24076200-24078200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr20:24076200-24082800	Weak transcription	HMEC	breast
6	chr20:24076400-24077800	Weak transcription	Spleen	Spleen
7	chr20:24076600-24079200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr20:24076800-24077600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr20:24076800-24078000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr20:24076800-24078800	Enhancers	Placenta	Placenta
11	chr20:24077000-24079200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr20:24077000-24079200	Weak transcription	NHEK	skin
13	chr20:24077200-24077800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr20:24077200-24077800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr20:24077200-24078000	Bivalent Enhancer	Fetal Stomach	stomach
16	chr20:24077200-24079400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr20:24077400-24078000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr20:24077400-24079400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr20:24077400-24081200	Weak transcription	Pancreas	Pancrea

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