Variant report

Variant	rs7300780
Chromosome Location	chr12:40911882-40911883
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11176961	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11610924	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs11613807	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11614334	0.80[ASN][1000 genomes]
rs12813279	0.81[ASN][1000 genomes]
rs12818027	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1388783	0.80[AFR][1000 genomes]
rs1463739	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs1492326	0.82[ASN][1000 genomes]
rs1492327	0.82[ASN][1000 genomes]
rs36106309	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61913634	0.80[ASN][1000 genomes]
rs61913635	0.80[ASN][1000 genomes]
rs61916098	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7310404	0.80[AMR][1000 genomes];0.83[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	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv8970	chr12:40904094-40951213	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40911800-40912800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr12:40911800-40913000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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

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