Variant report

Variant	rs2248334
Chromosome Location	chr8:11514071-11514072
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10108939	0.97[ASN][1000 genomes]
rs11775743	0.82[ASN][1000 genomes]
rs11781607	0.82[ASN][1000 genomes]
rs11782574	0.82[ASN][1000 genomes]
rs11992926	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13267835	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13279932	0.83[ASN][1000 genomes]
rs1564266	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17153574	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1975956	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2248337	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2251926	0.88[ASN][1000 genomes]
rs34883161	0.92[ASN][1000 genomes]
rs4841577	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6601601	0.94[ASN][1000 genomes]
rs7828656	0.81[ASN][1000 genomes]
rs899370	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[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	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv968504	chr8:11503821-11515422	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11502400-11515400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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