Variant report

Variant	rs7008671
Chromosome Location	chr8:66474399-66474400
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10504389	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16932286	0.87[CEU][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap]
rs17304516	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs61316312	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66802499	0.81[EUR][1000 genomes]
rs66831149	0.81[EUR][1000 genomes]
rs66850618	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66851666	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67102418	0.81[EUR][1000 genomes]
rs67679220	0.81[EUR][1000 genomes]
rs68077070	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7002171	0.87[CEU][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap]
rs7002953	0.87[CEU][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap]
rs72664797	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72666526	0.81[EUR][1000 genomes]
rs73240726	0.81[EUR][1000 genomes]
rs73240751	0.81[EUR][1000 genomes]
rs7822636	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.81[EUR][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	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7008671	MTFR1	cis	Muscle Skeletal	GTEx
rs7008671	MTFR1	cis	multi-tissue	Pritchard
rs7008671	PDE7A	cis	multi-tissue	Pritchard
rs7008671	MTFR1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66472400-66474400	Enhancers	Fetal Brain Male	brain
2	chr8:66472800-66475000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr8:66473200-66474600	Weak transcription	Brain Substantia Nigra	brain
4	chr8:66473400-66474400	Enhancers	Brain Cingulate Gyrus	brain
5	chr8:66474000-66474400	Enhancers	Brain Anterior Caudate	brain
6	chr8:66474200-66475000	Active TSS	Brain Hippocampus Middle	brain
7	chr8:66474200-66475200	Active TSS	Brain Angular Gyrus	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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