Variant report

Variant	rs4242568
Chromosome Location	chr8:117999279-117999280
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	chr8:117999026..118002004-chr8:118003208..118005639,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1001646	0.83[JPT][hapmap]
rs10429428	0.82[ASN][1000 genomes]
rs10429430	0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs1155178	0.83[JPT][hapmap]
rs12542825	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs12675339	0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs13269147	0.91[JPT][hapmap]
rs1505525	0.84[YRI][hapmap];0.95[EUR][1000 genomes]
rs1596895	0.91[JPT][hapmap]
rs17745041	0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs1995581	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2047962	0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2047963	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2047964	0.95[EUR][1000 genomes]
rs2921722	0.91[JPT][hapmap]
rs2938861	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2938863	0.87[YRI][hapmap];0.99[EUR][1000 genomes]
rs2938864	0.87[YRI][hapmap];0.95[EUR][1000 genomes]
rs3019879	0.83[JPT][hapmap];0.95[EUR][1000 genomes]
rs3019880	0.87[EUR][1000 genomes]
rs3019883	0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs3019884	0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs3019885	0.93[EUR][1000 genomes]
rs3019886	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs3019890	0.96[EUR][1000 genomes]
rs3020107	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs3020108	0.91[JPT][hapmap]
rs3020110	0.82[CHB][hapmap];0.96[JPT][hapmap]
rs3020114	0.91[JPT][hapmap]
rs3020115	0.91[JPT][hapmap]
rs3020116	0.91[JPT][hapmap]
rs3020121	0.95[EUR][1000 genomes]
rs3020122	0.95[EUR][1000 genomes]
rs4242567	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4269571	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs4510896	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs55926302	0.82[ASN][1000 genomes]
rs56956780	0.82[ASN][1000 genomes]
rs60486060	0.82[ASN][1000 genomes]
rs6469667	0.83[JPT][hapmap]
rs6469668	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6987643	0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs7013929	0.81[ASN][1000 genomes]
rs7842705	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs921067	0.82[CHB][hapmap];0.96[JPT][hapmap]

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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027920	chr8:117983619-118079816	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv539732	chr8:117983619-118079816	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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
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