Variant report

Variant	rs10002243
Chromosome Location	chr4:148052172-148052173
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10006983	0.85[EUR][1000 genomes]
rs10010037	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10010117	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10012343	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10034616	1.00[EUR][1000 genomes]
rs10155125	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17022628	0.93[EUR][1000 genomes]
rs55883521	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72733798	1.00[EUR][1000 genomes]
rs72735715	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72735721	0.84[EUR][1000 genomes]
rs72735726	0.85[EUR][1000 genomes]
rs72735731	0.85[EUR][1000 genomes]
rs72735733	0.85[EUR][1000 genomes]
rs7677110	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7697358	1.00[EUR][1000 genomes]
rs7698560	0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024629	chr4:147987351-148277008	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148051000-148059200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:148051400-148055400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:148052000-148055800	Weak transcription	Ovary	ovary

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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