Variant report

Variant	rs12208007
Chromosome Location	chr6:48721877-48721878
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10948435	0.82[EUR][1000 genomes]
rs10948441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10948445	0.84[ASN][1000 genomes]
rs11965358	0.82[EUR][1000 genomes]
rs11967722	0.82[EUR][1000 genomes]
rs12190429	0.84[ASN][1000 genomes]
rs17290000	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1938203	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1938204	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1938206	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2211639	0.84[ASN][1000 genomes]
rs2396885	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2495867	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56102631	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72860769	0.84[ASN][1000 genomes]
rs9367334	0.84[ASN][1000 genomes]
rs9395394	0.82[EUR][1000 genomes]
rs9395406	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9395410	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033151	chr6:48067287-48797029	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv538217	chr6:48067287-48797029	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv949690	chr6:48595821-49289855	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv885879	chr6:48634956-48730669	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12208007	PGK2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48715400-48723800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

Quick Search:

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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