Variant report

Variant	rs7605249
Chromosome Location	chr2:178781455-178781456
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178773541..178777699-chr2:178778519..178781907,4	K562	blood:
2	chr2:178775340..178778251-chr2:178778519..178782128,3	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs12987515	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12994400	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13002118	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13002245	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13004037	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13006992	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13010041	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13012088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13014074	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13022805	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13026166	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13027484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13033904	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17329811	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34171827	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34261053	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34356580	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34595897	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34648335	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34699522	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34752624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34956941	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35305315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35391362	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35391652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35586165	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35678669	0.94[EUR][1000 genomes]
rs35691613	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35862134	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35987785	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6746482	0.80[EUR][1000 genomes]
rs6756606	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71423505	0.92[EUR][1000 genomes]
rs71423507	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71423508	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71423514	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71423525	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71423542	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71423543	0.80[EUR][1000 genomes]
rs71423544	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7569826	0.83[EUR][1000 genomes]
rs7574975	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7588187	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7588301	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7592278	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7596644	0.93[AMR][1000 genomes];0.96[EUR][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	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1007579	chr2:178729330-178890946	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv998304	chr2:178756380-178924378	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv536056	chr2:178756380-178924378	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178781200-178782000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:178781400-178781800	Weak transcription	Fetal Heart	heart

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