Variant report

Variant	rs522704
Chromosome Location	chr8:9768834-9768835
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11985767	1.00[AMR][1000 genomes]
rs11994045	1.00[AMR][1000 genomes]
rs1708879	1.00[ASW][hapmap]
rs3989134	1.00[AMR][1000 genomes]
rs487816	1.00[AMR][1000 genomes]
rs541362	1.00[AMR][1000 genomes]
rs623046	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs635341	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs658620	0.87[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs666853	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs667249	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6995352	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs522704	C20orf103	trans	lymphoblastoid	seeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9765600-9770200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:9766600-9771200	Enhancers	Fetal Brain Male	brain
3	chr8:9767200-9770400	Enhancers	Brain Germinal Matrix	brain
4	chr8:9768600-9775800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:9768600-9776600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:9768800-9769200	Enhancers	Fetal Brain Female	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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