Variant report

Variant	rs17579744
Chromosome Location	chr2:86231059-86231060
allele	A/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:
2	chr2:86230802..86233704-chr2:86235020..86238319,3	K562	blood:

Variant related genes	Relation type
ENSG00000115525	Chromatin interaction
ENSG00000232504	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10168997	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11127012	0.93[CEU][hapmap]
rs11885520	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11886175	0.96[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11895453	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11903682	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12124	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs13390107	0.86[AMR][1000 genomes]
rs1469981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1469982	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1978842	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278532	0.91[JPT][hapmap]
rs311563	0.90[AFR][1000 genomes]
rs3731822	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs3770086	0.91[JPT][hapmap]
rs3770088	0.82[JPT][hapmap]
rs3770091	0.91[JPT][hapmap]
rs57339071	0.86[AMR][1000 genomes]
rs57361751	0.81[ASN][1000 genomes]
rs57405155	0.81[ASN][1000 genomes]
rs58077381	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58913632	0.81[ASN][1000 genomes]
rs6707736	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6708805	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6741224	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6749218	0.86[AMR][1000 genomes]
rs6752561	0.84[AMR][1000 genomes]
rs72847838	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847843	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72847845	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72847853	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7569121	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7599498	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9679308	1.00[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17579744	MRPL35	Cis_1M	lymphoblastoid	RTeQTL
rs17579744	POLR1A	cis	multi-tissue	Pritchard

Chromatin state (count:6 , 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	chr2:86229600-86232400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:86230600-86231200	Weak transcription	Spleen	Spleen
5	chr2:86231000-86231800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr2:86231000-86232400	Enhancers	Monocytes-CD14+_RO01746	blood

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