Variant report

Variant	rs2708427
Chromosome Location	chr12:40598939-40598940
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	chr12:40597517..40600322-chr12:40605533..40608551,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1388594	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1491932	0.96[AFR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1491940	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1491941	0.82[CEU][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2131086	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2201141	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2263419	0.96[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2263420	0.96[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2279535	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2638229	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2638230	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2638233	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2638272	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2708418	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2708419	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2708420	0.95[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2708421	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2708422	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2708424	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2708435	0.92[CEU][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2723259	0.96[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2723261	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4567538	0.89[CEU][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57944060	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7970326	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7973254	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2708427	SLC2A13	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40597200-40601800	Weak transcription	Primary B cells from cord blood	blood
2	chr12:40597200-40602200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:40597200-40602200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:40597200-40602200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:40597600-40601400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:40598600-40600200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr12:40598800-40600200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr12:40598800-40600800	Weak transcription	Monocytes-CD14+_RO01746	blood

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