Variant report

Variant	rs11993797
Chromosome Location	chr8:61046337-61046338
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:19)

rs_ID	r²[population]
rs10504307	0.87[CEU][hapmap]
rs11992705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992804	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997938	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16918817	0.94[ASN][1000 genomes]
rs16925594	0.80[CHB][hapmap]
rs16925756	0.94[ASN][1000 genomes]
rs17811959	0.87[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1965456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1965457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28608109	0.87[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs58381151	0.85[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs59103400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62509884	0.94[ASN][1000 genomes]
rs62509903	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62509912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62509914	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994120	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7822705	0.94[ASN][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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv831332	chr8:60985600-61157730	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61043000-61049000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:61043400-61048600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:61043400-61048600	Weak transcription	Brain Germinal Matrix	brain
4	chr8:61044600-61047800	Weak transcription	Fetal Brain Male	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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