Variant report

Variant	rs2107939
Chromosome Location	chr7:124439888-124439889
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:124430897..124433270-chr7:124438341..124440409,2	K562	blood:
2	chr7:124438815..124440999-chr7:124441990..124444293,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10224463	0.87[ASN][1000 genomes]
rs10225552	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10226033	0.89[ASN][1000 genomes]
rs10228201	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10230610	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10233385	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10233596	0.89[ASN][1000 genomes]
rs10240673	0.89[ASN][1000 genomes]
rs10241173	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10244817	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10246424	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10249722	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10253613	0.89[ASN][1000 genomes]
rs10264060	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10265763	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10271646	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10281582	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10464529	0.88[ASN][1000 genomes]
rs12111865	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1541416	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1541418	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17246404	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2239532	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2286175	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2402751	0.97[ASN][1000 genomes]
rs2402752	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28523990	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28622327	0.89[ASN][1000 genomes]
rs28638102	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28728448	0.89[ASN][1000 genomes]
rs28844358	0.89[ASN][1000 genomes]
rs34986416	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36045816	0.89[ASN][1000 genomes]
rs3925331	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4473974	0.89[ASN][1000 genomes]
rs4532534	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55964341	0.89[ASN][1000 genomes]
rs56313563	0.89[ASN][1000 genomes]
rs56321835	0.89[ASN][1000 genomes]
rs56356267	0.89[ASN][1000 genomes]
rs56387611	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59294613	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59670428	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66492217	0.89[ASN][1000 genomes]
rs66513837	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66526112	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66665074	0.89[ASN][1000 genomes]
rs66922607	0.89[ASN][1000 genomes]
rs67084428	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67146030	0.89[ASN][1000 genomes]
rs67552763	0.89[ASN][1000 genomes]
rs67585224	0.89[ASN][1000 genomes]
rs67939974	0.89[ASN][1000 genomes]
rs68007199	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68091803	0.89[ASN][1000 genomes]
rs6943653	0.89[ASN][1000 genomes]
rs6952721	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6971909	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs720613	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs720614	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs722560	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs727505	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7777947	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7790856	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7791430	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7795943	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7801661	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7806680	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9655845	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs988699	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs989177	0.85[EUR][1000 genomes];0.89[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	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124433600-124442200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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