Variant report

Variant	rs13374242
Chromosome Location	chr1:186448467-186448468
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186444111..186446250-chr1:186446350..186448922,2	K562	blood:
2	chr1:186420922..186422805-chr1:186448393..186449900,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10489394	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10489395	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10494585	1.00[AMR][1000 genomes]
rs10494588	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12239085	0.87[AMR][1000 genomes]
rs12239322	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12239327	0.87[AMR][1000 genomes]
rs13374147	0.87[AMR][1000 genomes]
rs13376114	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13376658	0.87[AMR][1000 genomes]
rs16825187	0.89[AMR][1000 genomes]
rs16825277	0.89[AMR][1000 genomes]
rs16825282	0.89[AMR][1000 genomes]
rs16825292	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs16825329	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs16825448	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16825457	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1929094	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3934201	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41393449	0.99[AFR][1000 genomes]
rs56158125	0.87[AMR][1000 genomes]
rs56888492	1.00[AMR][1000 genomes]
rs57020506	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57488115	0.87[AMR][1000 genomes]
rs58300321	0.87[AMR][1000 genomes]
rs58336827	0.87[AMR][1000 genomes]
rs58410196	0.87[AMR][1000 genomes]
rs59886878	0.85[AFR][1000 genomes]
rs60957652	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6425029	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6673816	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6679283	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6688055	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6695920	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7355201	0.87[AMR][1000 genomes]
rs7355203	1.00[AMR][1000 genomes]
rs7530502	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7547924	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs9803910	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	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

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186406600-186450000	Weak transcription	Brain Angular Gyrus	brain
2	chr1:186446200-186450400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:186446200-186450600	Weak transcription	Osteobl	bone
4	chr1:186447400-186449600	Weak transcription	HUVEC	blood vessel
5	chr1:186447400-186451800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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