Variant report

Variant	rs12239322
Chromosome Location	chr1:186422814-186422815
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10489394	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10489395	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10494585	0.87[AMR][1000 genomes]
rs10494588	0.87[AFR][1000 genomes]
rs12239085	1.00[AMR][1000 genomes]
rs12239327	1.00[AMR][1000 genomes]
rs13374147	1.00[AMR][1000 genomes]
rs13374242	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13376114	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13376658	1.00[AMR][1000 genomes]
rs16825292	0.84[AFR][1000 genomes]
rs16825329	0.87[AFR][1000 genomes]
rs16825448	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16825457	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1929094	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs3934201	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs41393449	0.86[AFR][1000 genomes]
rs56158125	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56888492	0.87[AMR][1000 genomes]
rs57020506	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57488115	1.00[AMR][1000 genomes]
rs58300321	1.00[AMR][1000 genomes]
rs58336827	1.00[AMR][1000 genomes]
rs58410196	1.00[AMR][1000 genomes]
rs59886878	1.00[AFR][1000 genomes]
rs60957652	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6425029	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6673816	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6679283	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6688055	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6695920	0.81[AFR][1000 genomes]
rs7355201	1.00[AMR][1000 genomes]
rs7355203	0.87[AMR][1000 genomes]
rs7530502	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7547924	0.84[AFR][1000 genomes]
rs9803910	1.00[AMR][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	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1822818	chr1:186301447-186441585	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	esv1824284	chr1:186358588-186441585	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186404200-186431400	Weak transcription	GM12878-XiMat	blood
2	chr1:186406600-186450000	Weak transcription	Brain Angular Gyrus	brain
3	chr1:186422800-186425800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:186422800-186426600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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