Variant report

Variant	rs2399557
Chromosome Location	chr6:101611952-101611953
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1149271	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs12199600	0.98[EUR][1000 genomes]
rs12208565	1.00[ASN][1000 genomes]
rs1222375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254178	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2518322	0.86[EUR][1000 genomes]
rs2749130	1.00[ASN][1000 genomes]
rs2764271	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2797369	0.88[EUR][1000 genomes]
rs4240592	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4429955	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4455678	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4615398	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4839795	1.00[ASN][1000 genomes]
rs496596	1.00[ASN][1000 genomes]
rs503387	1.00[ASN][1000 genomes]
rs570556	1.00[ASN][1000 genomes]
rs626262	1.00[ASN][1000 genomes]
rs643101	1.00[ASN][1000 genomes]
rs658318	1.00[ASN][1000 genomes]
rs661064	1.00[ASN][1000 genomes]
rs687497	1.00[ASN][1000 genomes]
rs697438	1.00[ASN][1000 genomes]
rs72944877	1.00[ASN][1000 genomes]
rs72958632	1.00[ASN][1000 genomes]
rs7740295	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs817226	1.00[ASN][1000 genomes]
rs817227	1.00[ASN][1000 genomes]
rs817234	1.00[ASN][1000 genomes]
rs9390724	1.00[ASN][1000 genomes]
rs9498487	1.00[ASN][1000 genomes]
rs9498519	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][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	nsv1020400	chr6:101172705-101981665	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv538390	chr6:101172705-101981665	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1019213	chr6:101225650-101623140	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv538391	chr6:101225650-101623140	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr6:101611600-101612000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:101611600-101612200	Enhancers	Dnd41	blood

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