Variant report

Variant	rs57368405
Chromosome Location	chr20:23413804-23413805
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	chr10:38581321..38584038-chr20:23412027..23414957,2	K562	blood:
2	chr20:23402010..23403710-chr20:23413584..23415342,2	K562	blood:

Variant related genes	Relation type
ENSG00000125814	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs36010049	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55939409	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56122110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56830667	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57226979	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57456391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57782497	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57842978	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58592887	1.00[EUR][1000 genomes]
rs59499588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59893880	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60127144	1.00[EUR][1000 genomes]
rs6036425	1.00[EUR][1000 genomes]
rs60394866	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6048735	1.00[EUR][1000 genomes]
rs6106654	1.00[EUR][1000 genomes]
rs6106670	1.00[EUR][1000 genomes]
rs6114092	1.00[EUR][1000 genomes]
rs6114096	1.00[EUR][1000 genomes]
rs6114099	1.00[EUR][1000 genomes]
rs6114102	1.00[EUR][1000 genomes]
rs6114143	1.00[EUR][1000 genomes]
rs6114148	1.00[EUR][1000 genomes]
rs6114149	1.00[EUR][1000 genomes]
rs7263724	1.00[EUR][1000 genomes]
rs73901804	1.00[EUR][1000 genomes]
rs73901806	1.00[EUR][1000 genomes]
rs73901807	1.00[EUR][1000 genomes]
rs73901808	1.00[EUR][1000 genomes]
rs73901810	1.00[EUR][1000 genomes]
rs73901812	1.00[EUR][1000 genomes]
rs73901814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73901818	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73901819	1.00[EUR][1000 genomes]
rs73901821	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73901823	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73901825	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73901827	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73901857	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73901858	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73901861	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73901862	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73901863	1.00[EUR][1000 genomes]
rs73901872	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73901874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73904260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73904261	1.00[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	nsv1063655	chr20:23396649-23489730	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv912818	chr20:23406519-23567838	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv912819	chr20:23406519-23569400	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv912820	chr20:23406519-23578148	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv3373030	chr20:23406702-23414350	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1065390	chr20:23412890-23569238	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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