Variant report

Variant	rs7549193
Chromosome Location	chr1:79212155-79212156
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1034002	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10493614	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11162545	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12135932	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12563160	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12731730	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12734271	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1571158	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1571159	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1571160	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1780720	0.81[AMR][1000 genomes]
rs1926890	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1926893	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1926896	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1967821	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4650377	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4650601	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6424795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661796	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7415230	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7529611	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7531774	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[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	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv871588	chr1:79164901-79214489	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
4	nsv526221	chr1:79197624-79487080	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv817535	chr1:79203834-79473089	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr1:79209600-79213400	Weak transcription	NHDF-Ad	bronchial
2	chr1:79211600-79217200	Weak transcription	Muscle Satellite Cultured Cells	--

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