Variant report

Variant	rs13007409
Chromosome Location	chr2:178933528-178933529
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	chr2:178932912..178934541-chr2:178939711..178942332,2	K562	blood:
2	chr2:178929469..178931467-chr2:178932896..178934478,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12987515	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12994400	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13002118	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13002245	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13006992	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13014945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13019139	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13026166	0.86[AMR][1000 genomes]
rs13030321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1435573	0.99[EUR][1000 genomes]
rs17329811	0.86[AMR][1000 genomes]
rs34261053	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34595897	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34648335	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34699522	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34956941	0.86[AMR][1000 genomes]
rs35068650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35397469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35678669	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35691613	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35862134	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35987785	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6746482	0.97[EUR][1000 genomes]
rs71423525	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71423542	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71423543	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71423544	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71423549	0.82[AMR][1000 genomes]
rs7574975	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7588187	0.86[AMR][1000 genomes]
rs7588301	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178929200-178934200	Weak transcription	Fetal Intestine Small	intestine
2	chr2:178931600-178937000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:178932000-178934200	Weak transcription	Pancreas	Pancrea
4	chr2:178932000-178936600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:178932800-178934400	Weak transcription	HepG2	liver
6	chr2:178933200-178935600	Enhancers	K562	blood

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