Variant report

Variant	rs9899997
Chromosome Location	chr17:46542719-46542720
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46542238..46544770-chr17:46708220..46710707,2	K562	blood:
2	chr17:46541136..46543467-chr17:46547633..46550633,3	K562	blood:
3	chr17:46537181..46540106-chr17:46541268..46543323,2	K562	blood:

Variant related genes	Relation type
ENSG00000264451	Chromatin interaction
ENSG00000210741	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10514944	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap]
rs1396869	0.85[ASN][1000 genomes]
rs16954937	1.00[YRI][hapmap]
rs16955293	1.00[YRI][hapmap]
rs16955495	1.00[YRI][hapmap]
rs16955960	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap]
rs16956501	1.00[CEU][hapmap];0.93[CHB][hapmap];0.83[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16957085	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16957299	0.93[CHB][hapmap];1.00[GIH][hapmap];0.84[ASN][1000 genomes]
rs17621689	1.00[CEU][hapmap]
rs17623416	1.00[CEU][hapmap]
rs17623518	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap]
rs17694404	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap]
rs2271264	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34463696	0.94[ASN][1000 genomes]
rs3809744	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55641965	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55751709	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55765969	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55912545	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56103412	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56311919	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56371910	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72827869	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72827873	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72827897	0.89[ASN][1000 genomes]
rs8074951	1.00[YRI][hapmap]
rs9907565	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9913716	0.86[CHB][hapmap];0.86[AFR][1000 genomes];0.94[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	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 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	chr17:46541600-46543400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr17:46542200-46549800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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