Variant report

Variant	rs4493920
Chromosome Location	chr8:20231635-20231636
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1038465	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10503678	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11204110	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11204111	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12541135	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12541289	0.80[AMR][1000 genomes]
rs12543131	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12543855	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12544052	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12544080	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12544394	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12544659	0.80[AMR][1000 genomes]
rs12547804	0.92[EUR][1000 genomes]
rs12549080	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12550451	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12679658	0.81[AMR][1000 genomes]
rs12681197	0.89[EUR][1000 genomes]
rs12681832	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13249689	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13278066	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1872346	0.92[EUR][1000 genomes]
rs2062347	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2062348	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2410641	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2410643	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34368954	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34393111	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34738114	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35102761	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35267049	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35851624	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35946940	0.81[AMR][1000 genomes]
rs3892686	0.81[EUR][1000 genomes]
rs4269558	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4270981	0.82[AMR][1000 genomes]
rs4376510	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4397421	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4397422	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4442161	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4921704	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4921705	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4921706	0.91[EUR][1000 genomes]
rs4922163	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4922164	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4922167	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4922168	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4922169	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4922170	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4922171	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4922172	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4922174	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4922176	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57421611	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58488103	0.82[AFR][1000 genomes]
rs6586911	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66866121	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs900954	0.91[EUR][1000 genomes]
rs900955	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9650601	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv831256	chr8:20162233-20300224	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2758152	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2759603	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20227000-20232800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr8:20227200-20232000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:20227200-20232200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:20227200-20233000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:20227200-20233400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:20227200-20234000	Weak transcription	HSMMtube	muscle
7	chr8:20228800-20232200	Enhancers	Fetal Muscle Leg	muscle
8	chr8:20229600-20232400	Enhancers	Fetal Muscle Trunk	muscle
9	chr8:20230800-20234200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:20231000-20232000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:20231400-20231800	Weak transcription	HSMM	muscle
12	chr8:20231400-20232600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr8:20231400-20234800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:20231600-20232000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
15	chr8:20231600-20232000	Enhancers	HMEC	breast
16	chr8:20231600-20232200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
17	chr8:20231600-20232800	Weak transcription	Fetal Brain Male	brain
18	chr8:20231600-20233200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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