Variant report

Variant	rs57243721
Chromosome Location	chr4:129978561-129978562
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:129977804..129979705-chr4:129980328..129983022,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs55707740	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55714747	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55955516	0.83[AFR][1000 genomes]
rs56002856	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56069250	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56721576	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57056827	1.00[AMR][1000 genomes]
rs57542268	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58701517	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58799593	1.00[AMR][1000 genomes]
rs60005322	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60227965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61267810	0.83[AFR][1000 genomes]
rs61700015	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847304	1.00[AMR][1000 genomes]
rs73847305	0.83[AFR][1000 genomes]
rs73847312	1.00[AMR][1000 genomes]
rs73847313	1.00[AMR][1000 genomes]
rs73847314	1.00[AMR][1000 genomes]
rs73847316	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847317	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847322	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847323	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847326	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847327	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847329	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847331	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847332	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847333	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847334	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847341	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847342	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847345	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847347	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847354	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847355	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847358	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847375	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847378	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847380	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847383	1.00[AMR][1000 genomes]
rs73847391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847392	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847398	1.00[AFR][1000 genomes]
rs73847399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73848906	1.00[AMR][1000 genomes]
rs73848910	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73848913	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73848934	0.83[AFR][1000 genomes]
rs73850013	1.00[AMR][1000 genomes]
rs73850015	1.00[AMR][1000 genomes]
rs73850016	1.00[AMR][1000 genomes]
rs73850017	1.00[AMR][1000 genomes]
rs73850018	1.00[AMR][1000 genomes]
rs73850019	1.00[AMR][1000 genomes]
rs73850027	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850028	1.00[AMR][1000 genomes]
rs73850035	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850039	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850041	1.00[AMR][1000 genomes]
rs73850059	1.00[AMR][1000 genomes]
rs73850061	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850064	1.00[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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv522694	chr4:129862073-129994690	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129945600-129981800	Weak transcription	Thymus	Thymus
2	chr4:129976200-129979000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr4:129977200-130000600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:129977400-129981600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:129977400-129981600	Weak transcription	Aorta	Aorta
6	chr4:129977400-129981600	Weak transcription	Gastric	stomach
7	chr4:129977400-129981800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:129977400-129981800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:129977400-129982000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:129977400-129982000	Weak transcription	Ovary	ovary
11	chr4:129977400-129982000	Weak transcription	Pancreas	Pancrea

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