Variant report

Variant	rs2560721
Chromosome Location	chr4:122675686-122675687
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:122675401..122678000-chr4:122678051..122680477,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1143650	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2431545	0.88[AFR][1000 genomes]
rs2546206	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2546207	1.00[AMR][1000 genomes]
rs2546208	1.00[AMR][1000 genomes]
rs2546209	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2546212	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2560719	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2560720	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2560722	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2560724	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2636960	1.00[AMR][1000 genomes]
rs2636965	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2636967	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2636970	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2652698	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678068	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678069	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678072	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678073	1.00[AMR][1000 genomes]
rs2678075	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678077	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678082	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678083	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678093	1.00[AMR][1000 genomes]
rs34053410	1.00[AMR][1000 genomes]
rs35121430	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	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv461635	chr4:122633535-122720999	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv595357	chr4:122633535-122720999	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv508309	chr4:122663791-122680645	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122674000-122684800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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