Variant report

Variant	rs4738690
Chromosome Location	chr8:59444293-59444294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10104568	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10111506	0.80[ASN][1000 genomes]
rs1023649	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1023650	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1023651	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1023652	0.95[EUR][1000 genomes]
rs1125226	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11776003	0.80[ASN][1000 genomes]
rs12541539	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12543344	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12674568	0.80[ASN][1000 genomes]
rs12680996	0.80[ASN][1000 genomes]
rs13251096	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13263039	0.95[EUR][1000 genomes]
rs1427162	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1582824	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16923562	0.80[ASN][1000 genomes]
rs16923564	0.80[ASN][1000 genomes]
rs1834733	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2634527	0.88[ASN][1000 genomes]
rs28429491	0.80[ASN][1000 genomes]
rs28650441	0.81[ASN][1000 genomes]
rs3903445	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4573256	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4737501	0.92[EUR][1000 genomes]
rs4738691	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55774738	0.81[ASN][1000 genomes]
rs6471729	0.81[ASN][1000 genomes]
rs6981601	0.80[ASN][1000 genomes]
rs6984439	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6986129	0.80[ASN][1000 genomes]
rs6987187	0.88[ASN][1000 genomes]
rs7005296	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7009248	0.81[ASN][1000 genomes]
rs7009374	0.81[ASN][1000 genomes]
rs7014398	0.80[ASN][1000 genomes]
rs7016868	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817515	0.81[ASN][1000 genomes]
rs7833904	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9297995	0.80[ASN][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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv6212	chr8:59435671-59451750	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59440400-59465200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:59442400-59447200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:59442600-59445400	Weak transcription	Right Ventricle	heart
4	chr8:59442800-59445400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:59442800-59446000	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:59442800-59446400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:59442800-59446800	Weak transcription	Right Atrium	heart
8	chr8:59442800-59447600	Weak transcription	Gastric	stomach
9	chr8:59443000-59445000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:59443000-59445400	Weak transcription	Placenta	Placenta
11	chr8:59443000-59445800	Weak transcription	Fetal Heart	heart
12	chr8:59443000-59445800	Weak transcription	HSMMtube	muscle
13	chr8:59443000-59446600	Weak transcription	Left Ventricle	heart
14	chr8:59443000-59450800	Weak transcription	Colon Smooth Muscle	Colon

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