Variant report

Variant	rs1443263
Chromosome Location	chr17:66837672-66837673
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1008821	0.92[AFR][1000 genomes]
rs1008822	0.92[AFR][1000 genomes]
rs1443259	0.90[EUR][1000 genomes]
rs1470294	0.88[EUR][1000 genomes]
rs1481	0.93[ASW][hapmap];0.82[YRI][hapmap]
rs1550646	0.91[EUR][1000 genomes]
rs1808919	0.85[EUR][1000 genomes]
rs1838100	0.90[EUR][1000 genomes]
rs1867235	0.88[EUR][1000 genomes]
rs1899576	0.82[EUR][1000 genomes]
rs1978962	0.88[EUR][1000 genomes]
rs2218351	0.93[AFR][1000 genomes]
rs4556855	0.85[EUR][1000 genomes]
rs4968962	0.88[EUR][1000 genomes]
rs6501766	0.88[EUR][1000 genomes]
rs6501767	0.88[EUR][1000 genomes]
rs6501768	0.88[EUR][1000 genomes]
rs6501781	0.92[AFR][1000 genomes]
rs8074944	0.82[CEU][hapmap]
rs8078168	0.87[EUR][1000 genomes]
rs8082619	0.91[EUR][1000 genomes]
rs894593	0.87[EUR][1000 genomes]
rs980423	0.87[EUR][1000 genomes]
rs9895868	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv908694	chr17:66802992-66913936	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1443263	POLG2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66830200-66839600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr17:66831400-66839200	Weak transcription	Ovary	ovary
3	chr17:66834400-66845800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr17:66836600-66839800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr17:66836800-66838000	Weak transcription	Fetal Muscle Leg	muscle
6	chr17:66836800-66839800	Weak transcription	Brain Hippocampus Middle	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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