Variant report

Variant	rs443292
Chromosome Location	chr13:62880749-62880750
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1616275	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1756465	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2479698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2481874	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs308570	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs309098	1.00[ASN][1000 genomes]
rs309103	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3118819	0.82[AMR][1000 genomes]
rs3118823	0.82[AMR][1000 genomes]
rs3128054	0.82[AMR][1000 genomes]
rs429397	1.00[CHB][hapmap]
rs441676	0.82[AMR][1000 genomes]
rs7324687	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948810	chr13:62003256-62968196	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv900257	chr13:62782367-62907090	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv561893	chr13:62807570-62885877	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
4	nsv1038992	chr13:62827929-63369497	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv541795	chr13:62827929-63369497	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1038215	chr13:62836702-63405446	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs443292	NCF4	trans	lymphoblastoid	seeQTL
rs443292	FGD5	trans	lymphoblastoid	seeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62880200-62884200	Weak transcription	Right Atrium	heart
2	chr13:62880400-62881000	Enhancers	GM12878-XiMat	blood

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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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