Variant report

Variant	rs2723260
Chromosome Location	chr12:40601708-40601709
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10506148	0.90[CHB][hapmap];0.92[ASN][1000 genomes]
rs10784340	1.00[YRI][hapmap]
rs10877955	1.00[YRI][hapmap]
rs10877971	1.00[YRI][hapmap]
rs10878123	1.00[ASW][hapmap];0.85[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs10878208	0.83[JPT][hapmap]
rs11174831	1.00[YRI][hapmap]
rs11174928	1.00[ASW][hapmap];0.89[MEX][hapmap]
rs11175103	1.00[ASW][hapmap];0.89[MEX][hapmap]
rs11175256	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11175332	0.95[JPT][hapmap]
rs11175371	0.95[JPT][hapmap];1.00[YRI][hapmap]
rs11175401	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs11175405	0.89[JPT][hapmap]
rs11175422	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11175458	0.80[ASN][1000 genomes]
rs11175540	0.86[ASN][1000 genomes]
rs11175558	0.95[JPT][hapmap]
rs11564115	0.86[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1388593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1388596	0.85[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs1472117	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1491924	1.00[ASW][hapmap];0.85[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs1491939	0.85[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs1491942	0.86[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs17443199	0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs17458613	1.00[YRI][hapmap]
rs17461429	0.83[ASN][1000 genomes]
rs1817817	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1907630	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1907631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1907634	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2046931	0.90[JPT][hapmap]
rs2131088	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2172240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2172241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2201144	1.00[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2638244	0.90[JPT][hapmap]
rs2638268	0.90[JPT][hapmap]
rs2638270	0.95[JPT][hapmap]
rs2638271	0.90[JPT][hapmap]
rs2708426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2708436	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2708437	1.00[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2708438	1.00[ASW][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2708441	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2723268	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2723269	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs28365179	0.94[JPT][hapmap]
rs4473003	0.80[CHB][hapmap];0.80[ASN][1000 genomes]
rs7134572	0.80[CHB][hapmap]
rs72644819	0.86[ASN][1000 genomes]
rs7310104	0.90[JPT][hapmap]
rs949640	1.00[ASW][hapmap];0.85[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[YRI][hapmap]

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
rs2723260	ZCRB1	cis	cerebellum	SCAN

Chromatin state (count:17 , 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	chr12:40600200-40602200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr12:40600200-40602400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr12:40601000-40602000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:40601200-40602000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:40601200-40602000	Enhancers	NHEK	skin
10	chr12:40601200-40602600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:40601400-40601800	Enhancers	HMEC	breast
12	chr12:40601400-40604400	Enhancers	Primary B cells from peripheral blood	blood
13	chr12:40601600-40601800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr12:40601600-40601800	Enhancers	A549	lung
15	chr12:40601600-40602000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:40601600-40602000	Enhancers	Hela-S3	cervix
17	chr12:40601600-40604400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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