Variant report

Variant	rs72847845
Chromosome Location	chr2:86230124-86230125
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86114984..86117058-chr2:86228998..86231280,2	K562	blood:

Variant related genes	Relation type
ENSG00000232504	Chromatin interaction
ENSG00000115525	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10168997	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11885520	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11886175	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11895453	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11903682	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13390107	0.84[AMR][1000 genomes]
rs1469981	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1469982	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17579744	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1978842	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs311563	0.84[AFR][1000 genomes]
rs57339071	0.84[AMR][1000 genomes]
rs58077381	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6707736	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6708805	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6741224	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6749218	0.84[AMR][1000 genomes]
rs6752561	0.82[AMR][1000 genomes]
rs72847838	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72847843	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72847853	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7569121	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7599498	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9679308	0.98[AMR][1000 genomes];0.88[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	nsv1001104	chr2:86182021-86271923	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv535807	chr2:86182021-86271923	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86226200-86231800	Enhancers	K562	blood
2	chr2:86226800-86231400	Weak transcription	Psoas Muscle	Psoas
3	chr2:86228600-86230400	Weak transcription	Spleen	Spleen
4	chr2:86229000-86230600	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr2:86229400-86230200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:86229600-86232400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:86230000-86230600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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