Variant report

Variant	rs1340953
Chromosome Location	chr6:126951748-126951749
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:126950096..126952625-chr6:126952673..126954868,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1101556	0.86[EUR][1000 genomes]
rs1101557	0.86[EUR][1000 genomes]
rs1101558	0.81[EUR][1000 genomes]
rs1101559	0.81[EUR][1000 genomes]
rs1155938	0.91[EUR][1000 genomes]
rs1155939	0.91[EUR][1000 genomes]
rs1159619	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs1262545	0.86[EUR][1000 genomes]
rs1262546	0.86[EUR][1000 genomes]
rs1340952	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1490384	0.86[EUR][1000 genomes]
rs1490385	0.90[EUR][1000 genomes]
rs1538956	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1826189	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1844593	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2050644	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs3861455	0.96[EUR][1000 genomes]
rs3905044	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4243491	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4339479	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4380768	0.91[EUR][1000 genomes]
rs4626447	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4629707	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895813	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911485	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913430	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6918725	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6921183	0.90[EUR][1000 genomes]
rs6925689	0.84[EUR][1000 genomes]
rs7738836	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743860	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs8180649	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs853961	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs853962	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs853965	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs853966	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs853968	0.86[EUR][1000 genomes]
rs853969	0.86[EUR][1000 genomes]
rs853970	0.86[EUR][1000 genomes]
rs853971	0.86[EUR][1000 genomes]
rs853972	0.86[EUR][1000 genomes]
rs853973	0.86[EUR][1000 genomes]
rs853975	0.83[EUR][1000 genomes]
rs853976	0.80[EUR][1000 genomes]
rs853977	0.87[EUR][1000 genomes]
rs853979	0.87[EUR][1000 genomes]
rs853981	0.88[EUR][1000 genomes]
rs853982	0.88[EUR][1000 genomes]
rs853983	0.88[EUR][1000 genomes]
rs853985	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs853986	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs853987	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs861237	0.85[EUR][1000 genomes]
rs864937	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs864938	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9375442	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs9375447	0.92[EUR][1000 genomes]
rs9375450	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9388500	0.92[EUR][1000 genomes]
rs9388507	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9388509	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9401888	0.92[EUR][1000 genomes]
rs979197	0.86[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	nsv1021636	chr6:126792916-127022489	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1026498	chr6:126812609-127397240	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1024206	chr6:126873187-127475713	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv538438	chr6:126873187-127475713	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv830797	chr6:126923875-127100956	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv886637	chr6:126927717-126985351	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:126950800-126952800	Weak transcription	Fetal Brain Male	brain
2	chr6:126951600-126955000	Enhancers	NHDF-Ad	bronchial

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