Variant report

Variant	rs2723261
Chromosome Location	chr12:40601808-40601809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10878160	0.81[JPT][hapmap]
rs10878161	0.81[JPT][hapmap]
rs10878180	0.81[JPT][hapmap]
rs1388594	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1491932	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1491940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1491941	0.81[CEU][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2131086	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2201141	0.97[AFR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2263419	0.97[AFR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2263420	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2279535	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2307016	0.81[JPT][hapmap]
rs2638229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2638230	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2638233	0.95[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	0.96[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	0.97[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2708424	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2708427	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2708435	0.88[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2723259	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4567538	0.84[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57944060	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs767940	0.81[JPT][hapmap]
rs7969112	0.90[JPT][hapmap]
rs7970326	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7973254	0.91[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

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40597200-40602200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:40597200-40602200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:40597200-40602200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:40600200-40602200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr12:40600200-40602400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:40601000-40602000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:40601200-40602000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:40601200-40602000	Enhancers	NHEK	skin
9	chr12:40601200-40602600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:40601400-40604400	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:40601600-40602000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:40601600-40602000	Enhancers	Hela-S3	cervix
13	chr12:40601600-40604400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr12:40601800-40602200	Enhancers	Primary B cells from cord blood	blood
15	chr12:40601800-40602400	Weak transcription	A549	lung
16	chr12:40601800-40602600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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