Variant report

Variant	rs13264048
Chromosome Location	chr8:89227918-89227919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10091022	0.93[EUR][1000 genomes]
rs10099839	0.92[EUR][1000 genomes]
rs10104620	0.93[EUR][1000 genomes]
rs10110977	0.93[EUR][1000 genomes]
rs10113080	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13256568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13261169	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13439559	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16879913	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16881281	0.93[CEU][hapmap]
rs1879201	1.00[ASN][1000 genomes]
rs2049073	1.00[ASN][1000 genomes]
rs28649468	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28678551	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28904614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469298	0.95[EUR][1000 genomes]
rs7357573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7357575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7357576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7821734	0.92[EUR][1000 genomes]
rs939280	0.98[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	nsv1029898	chr8:88837956-89606641	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1030028	chr8:89060085-89733470	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1019111	chr8:89186908-89475460	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv831386	chr8:89209788-89403546	Enhancers Genic enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv527243	chr8:89217541-89227970	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13264048	LOC338579	trans	parietal	SCAN
rs13264048	CNGB3	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89217800-89231400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:89227600-89228200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr8:89227600-89228200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr8:89227600-89228200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr8:89227600-89228400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:89227600-89228400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:89227800-89228000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:89227800-89228200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:89227800-89228800	Enhancers	H1 Cell Line	embryonic stem cell

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