Variant report

Variant	rs2708422
Chromosome Location	chr12:40593676-40593677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10437933	0.82[ASN][1000 genomes]
rs10437934	0.82[ASN][1000 genomes]
rs10784407	0.82[ASN][1000 genomes]
rs10878160	0.81[ASN][1000 genomes]
rs10878161	0.81[ASN][1000 genomes]
rs10878162	0.81[ASN][1000 genomes]
rs10878170	0.82[ASN][1000 genomes]
rs10878174	0.82[ASN][1000 genomes]
rs10878180	0.82[ASN][1000 genomes]
rs10878199	0.82[ASN][1000 genomes]
rs11612806	0.86[ASN][1000 genomes]
rs1388594	0.82[ASN][1000 genomes]
rs1463721	0.81[ASN][1000 genomes]
rs1491932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1491940	0.97[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1491941	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17442770	0.81[ASN][1000 genomes]
rs2131086	0.84[ASN][1000 genomes]
rs2201141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2263419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2263420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2279535	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2307016	0.82[ASN][1000 genomes]
rs2638229	0.97[AFR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2638230	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2638233	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2638272	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2708418	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2708419	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2708420	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2708421	0.86[ASN][1000 genomes]
rs2708424	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2708427	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2708435	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2723259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2723261	0.97[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4567538	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57944060	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6581578	0.81[ASN][1000 genomes]
rs7969112	0.86[ASN][1000 genomes]
rs7970326	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7973254	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40590200-40595400	Weak transcription	Primary B cells from cord blood	blood
2	chr12:40590400-40595200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:40590400-40595600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:40590400-40596600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr12:40591000-40595600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:40591600-40594600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr12:40592200-40595200	Weak transcription	Monocytes-CD14+_RO01746	blood

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