Variant report

Variant	rs34953541
Chromosome Location	chr13:30255671-30255672
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	chr13:30251842..30253597-chr13:30255300..30256996,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11841138	0.83[EUR][1000 genomes]
rs11841148	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11841157	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11843086	0.95[AFR][1000 genomes]
rs12864518	0.83[EUR][1000 genomes]
rs12866053	1.00[AFR][1000 genomes]
rs12866393	0.95[AFR][1000 genomes]
rs12871145	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12876062	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1576607	0.95[AFR][1000 genomes]
rs17073796	0.86[AMR][1000 genomes]
rs17073799	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1831095	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34102821	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34177704	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34203921	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs34622544	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34715453	0.95[AFR][1000 genomes]
rs35253788	0.95[AFR][1000 genomes]
rs35331003	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35409650	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs35502883	0.81[EUR][1000 genomes]
rs35933222	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36018849	0.83[EUR][1000 genomes]
rs56044395	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs66982000	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67704126	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71434734	0.95[AFR][1000 genomes]
rs73157103	0.83[AMR][1000 genomes]
rs73157108	0.86[AMR][1000 genomes]
rs7324224	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7992067	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7996713	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9579456	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9579458	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9579460	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30250000-30256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:30251400-30255800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:30252200-30255800	Weak transcription	NHDF-Ad	bronchial
4	chr13:30252800-30257600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:30252800-30257800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:30253000-30256200	Enhancers	Fetal Brain Male	brain
7	chr13:30253800-30256400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:30253800-30257200	Weak transcription	NHEK	skin
9	chr13:30254000-30256400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr13:30255000-30262200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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