Variant report

Variant	rs12420443
Chromosome Location	chr11:59135964-59135965
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1026320	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10792232	0.88[EUR][1000 genomes]
rs11602535	0.80[EUR][1000 genomes]
rs11602856	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11604216	0.85[EUR][1000 genomes]
rs11605288	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11606927	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11606980	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12417674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12418613	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12419033	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12419445	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12420159	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12420477	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12785234	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12787182	0.80[EUR][1000 genomes]
rs12801196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12806497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1349777	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1453544	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1453547	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1453549	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1453550	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1453551	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1453552	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1522759	0.90[EUR][1000 genomes]
rs1589600	0.81[EUR][1000 genomes]
rs1589601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1608210	0.99[EUR][1000 genomes]
rs1608211	0.99[EUR][1000 genomes]
rs1608212	0.81[EUR][1000 genomes]
rs17498652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500478	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17584022	0.80[EUR][1000 genomes]
rs17591107	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1851513	0.81[EUR][1000 genomes]
rs1879929	0.84[EUR][1000 genomes]
rs1955070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1972149	0.81[EUR][1000 genomes]
rs2123675	0.81[EUR][1000 genomes]
rs2123676	0.81[EUR][1000 genomes]
rs2167923	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2198451	0.97[EUR][1000 genomes]
rs34037092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34387009	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34730029	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35630700	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35872497	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61901576	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61901620	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61902489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61902558	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61902559	0.85[EUR][1000 genomes]
rs61904569	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61904597	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7121582	0.81[EUR][1000 genomes]
rs7929008	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7934882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935959	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9787928	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1046084	chr11:59034871-59314519	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv541052	chr11:59119390-59185103	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1039690	chr11:59124719-59178832	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1047952	chr11:59124719-59221606	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59135000-59137200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr11:59135200-59137400	Enhancers	Primary B cells from peripheral blood	blood
3	chr11:59135400-59136400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr11:59135400-59136600	Enhancers	Fetal Thymus	thymus
5	chr11:59135400-59137000	Enhancers	Primary hematopoietic stem cells	blood
6	chr11:59135400-59137000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:59135400-59137200	Enhancers	Primary B cells from cord blood	blood
8	chr11:59135600-59136000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:59135600-59136400	Enhancers	Thymus	Thymus
10	chr11:59135600-59136400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr11:59135800-59136800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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