Variant report

Variant	rs12549128
Chromosome Location	chr8:9799769-9799770
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10092756	0.83[EUR][1000 genomes]
rs10094779	0.82[ASN][1000 genomes]
rs10481450	0.83[ASN][1000 genomes]
rs17150826	0.81[AMR][1000 genomes]
rs2670892	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28645519	0.82[ASN][1000 genomes]
rs497417	0.84[CEU][hapmap]
rs499005	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs509820	0.92[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap]
rs544515	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs582027	0.92[CEU][hapmap];0.89[CHB][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.88[TSI][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs582491	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs583484	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs588760	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs615171	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs616021	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs633777	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs688245	0.92[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs694553	0.92[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.87[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	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
2	nsv1023834	chr8:9798072-9904788	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12549128	MFHAS1	cis	cerebellum	SCAN
rs12549128	DEFA4	cis	cerebellum	SCAN
rs12549128	OR5R1	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9791800-9801800	Weak transcription	Fetal Brain Male	brain

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Input of quick search could be:

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

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