Variant report

Variant	rs2475628
Chromosome Location	chr6:114310813-114310814
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11758632	1.00[CHB][hapmap]
rs17792118	1.00[CHB][hapmap]
rs2475617	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2475618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2475619	0.92[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2475620	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2475621	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2475622	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2475623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2475624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2475625	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2475626	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2499610	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2499611	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2499612	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2499613	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2499616	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2499620	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3002601	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4296916	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4296917	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4551200	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4945985	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6568821	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6568824	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7748936	1.00[CHB][hapmap]
rs7764690	0.89[CEU][hapmap]
rs9320476	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9320477	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9374432	1.00[CEU][hapmap];0.95[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9398370	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9488300	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9488301	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9488302	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9488303	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9488304	0.88[AMR][1000 genomes];0.96[EUR][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	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114307600-114311000	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:114307600-114315200	Weak transcription	HSMMtube	muscle
3	chr6:114308600-114315600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:114309400-114318600	Weak transcription	Right Atrium	heart
5	chr6:114310800-114311000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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