Variant report

Variant	rs4423269
Chromosome Location	chr12:30448879-30448880
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30448261..30450995-chr12:30458439..30460562,2	K562	blood:

Variant related genes	Relation type
ENSG00000251781	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10506065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs10771683	0.97[EUR][1000 genomes]
rs10771684	0.97[EUR][1000 genomes]
rs10843688	0.93[EUR][1000 genomes]
rs10843691	0.97[EUR][1000 genomes]
rs10843693	0.97[EUR][1000 genomes]
rs10843695	0.97[EUR][1000 genomes]
rs10843696	0.97[EUR][1000 genomes]
rs10843697	0.86[EUR][1000 genomes]
rs10843698	0.87[EUR][1000 genomes]
rs10843699	0.95[EUR][1000 genomes]
rs10843700	0.97[EUR][1000 genomes]
rs10843701	0.97[EUR][1000 genomes]
rs10843712	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs10843713	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10843714	0.95[JPT][hapmap]
rs11050764	0.85[EUR][1000 genomes]
rs11050765	0.90[EUR][1000 genomes]
rs11050776	0.97[EUR][1000 genomes]
rs11050778	0.97[EUR][1000 genomes]
rs11050779	0.97[EUR][1000 genomes]
rs11050781	0.97[EUR][1000 genomes]
rs11050782	0.91[EUR][1000 genomes]
rs11050783	0.97[EUR][1000 genomes]
rs11050784	0.97[EUR][1000 genomes]
rs11050785	0.97[EUR][1000 genomes]
rs11050786	0.88[EUR][1000 genomes]
rs11050787	0.96[EUR][1000 genomes]
rs11050788	0.97[EUR][1000 genomes]
rs11050789	0.97[EUR][1000 genomes]
rs11050790	0.97[EUR][1000 genomes]
rs11050791	0.94[EUR][1000 genomes]
rs11050792	0.97[EUR][1000 genomes]
rs11050793	0.97[EUR][1000 genomes]
rs11050796	0.97[EUR][1000 genomes]
rs11050798	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12227866	0.97[EUR][1000 genomes]
rs12227878	0.97[EUR][1000 genomes]
rs12227920	0.97[EUR][1000 genomes]
rs12229601	0.83[ASN][1000 genomes]
rs12423648	0.96[EUR][1000 genomes]
rs1320923	0.83[YRI][hapmap]
rs1612581	1.00[YRI][hapmap]
rs1613702	0.91[YRI][hapmap]
rs1652184	0.83[YRI][hapmap]
rs1652189	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs1731490	0.84[YRI][hapmap]
rs1731491	0.83[YRI][hapmap]
rs1731492	0.83[YRI][hapmap]
rs1731515	0.82[YRI][hapmap]
rs1835250	0.97[EUR][1000 genomes]
rs1896900	0.93[EUR][1000 genomes]
rs2115684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2195539	0.97[EUR][1000 genomes]
rs2195541	0.97[EUR][1000 genomes]
rs2217388	0.97[EUR][1000 genomes]
rs2217389	0.97[EUR][1000 genomes]
rs2564593	0.91[YRI][hapmap]
rs3959962	0.97[EUR][1000 genomes]
rs4032096	0.93[EUR][1000 genomes]
rs4143644	0.97[EUR][1000 genomes]
rs4143645	0.97[EUR][1000 genomes]
rs4457837	0.85[EUR][1000 genomes]
rs4930915	0.93[EUR][1000 genomes]
rs4930920	0.97[EUR][1000 genomes]
rs4930921	0.97[EUR][1000 genomes]
rs4931306	0.85[EUR][1000 genomes]
rs4931311	0.97[EUR][1000 genomes]
rs4931315	0.97[EUR][1000 genomes]
rs4931316	0.96[EUR][1000 genomes]
rs57590563	0.97[EUR][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	nsv821695	chr12:30287314-30450174	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv832360	chr12:30393329-30555693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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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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