Variant report

Variant	rs16930997
Chromosome Location	chr8:65181152-65181153
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16930988	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs190937	0.92[EUR][1000 genomes]
rs2119184	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2165251	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2220203	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2883988	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs298194	0.92[EUR][1000 genomes]
rs34215741	0.94[EUR][1000 genomes]
rs4515592	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66464473	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66771575	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67315487	0.84[EUR][1000 genomes]
rs755764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948343	chr8:64804219-65328394	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	nsv890971	chr8:65028814-65242166	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65179000-65183400	Enhancers	Fetal Brain Male	brain
2	chr8:65179800-65182400	Weak transcription	Fetal Muscle Leg	muscle
3	chr8:65179800-65182600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:65180000-65181400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:65180000-65182400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:65180000-65182600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:65180200-65182400	Weak transcription	Fetal Brain Female	brain
8	chr8:65180400-65181400	Weak transcription	H9 Derived Neuronal Progenitor 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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