Variant report

Variant	rs11988945
Chromosome Location	chr8:64172989-64172990
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10086139	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10102076	0.92[EUR][1000 genomes]
rs10110180	0.92[EUR][1000 genomes]
rs10283333	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12708014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13266641	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13280015	0.87[AMR][1000 genomes]
rs1369455	0.92[AMR][1000 genomes]
rs1435459	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17209651	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2043525	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2217828	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28540594	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3924926	0.92[EUR][1000 genomes]
rs6991201	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7016325	0.82[AMR][1000 genomes]
rs7016339	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7463230	0.90[EUR][1000 genomes]
rs7465150	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[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	nsv831342	chr8:64084331-64294941	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv890967	chr8:64107847-64454446	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv1816645	chr8:64161544-64184282	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3336852	chr8:64172769-64173272	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64171600-64173000	Enhancers	HSMM	muscle
2	chr8:64172800-64173800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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