Variant report

Variant	rs13124870
Chromosome Location	chr4:129978560-129978561
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	chr4:129977804..129979705-chr4:129980328..129983022,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10518543	0.82[ASN][1000 genomes]
rs12648004	0.96[ASN][1000 genomes]
rs13106626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13127992	0.96[ASN][1000 genomes]
rs13136209	0.93[ASN][1000 genomes]
rs13138537	0.93[ASN][1000 genomes]
rs13139306	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17014149	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17014190	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17184802	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2068135	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2068136	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28643269	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs33999735	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34044129	0.87[AMR][1000 genomes]
rs34302928	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35053690	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35128288	0.93[ASN][1000 genomes]
rs35149191	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35199409	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35388412	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35412182	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36000518	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs36101862	0.93[ASN][1000 genomes]
rs36124477	0.87[AMR][1000 genomes]
rs36128858	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71612199	0.93[ASN][1000 genomes]
rs71613905	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71613907	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71613908	0.87[AMR][1000 genomes];0.96[ASN][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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