Variant report

Variant	rs521471
Chromosome Location	chr6:145475998-145475999
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1007379	0.83[EUR][1000 genomes]
rs13192528	0.86[EUR][1000 genomes]
rs2328639	0.94[EUR][1000 genomes]
rs2761089	0.93[EUR][1000 genomes]
rs2788713	0.94[EUR][1000 genomes]
rs2788720	0.83[EUR][1000 genomes]
rs477572	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs480110	0.83[EUR][1000 genomes]
rs499988	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs510141	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs512985	0.94[EUR][1000 genomes]
rs514258	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs515224	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs519680	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs526564	0.91[EUR][1000 genomes]
rs529733	0.84[EUR][1000 genomes]
rs539661	0.94[EUR][1000 genomes]
rs540319	0.94[EUR][1000 genomes]
rs544904	0.95[EUR][1000 genomes]
rs559299	0.93[EUR][1000 genomes]
rs561083	0.83[EUR][1000 genomes]
rs565687	0.83[EUR][1000 genomes]
rs572490	0.95[EUR][1000 genomes]
rs584911	0.83[EUR][1000 genomes]
rs605757	0.93[EUR][1000 genomes]
rs607623	0.94[EUR][1000 genomes]
rs609639	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs620561	0.94[EUR][1000 genomes]
rs621529	0.93[EUR][1000 genomes]
rs623736	0.83[EUR][1000 genomes]
rs625054	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs630099	0.83[EUR][1000 genomes]
rs632526	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs635627	0.83[EUR][1000 genomes]
rs636367	0.95[EUR][1000 genomes]
rs637348	0.93[EUR][1000 genomes]
rs648664	0.94[EUR][1000 genomes]
rs649933	0.94[EUR][1000 genomes]
rs650555	0.82[EUR][1000 genomes]
rs669469	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs669890	0.91[EUR][1000 genomes]
rs674575	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs683944	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1022965	chr6:145374851-145635385	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv830834	chr6:145392073-145556294	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv886743	chr6:145433861-145528057	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv886744	chr6:145452401-145528057	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145470400-145476800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:145473200-145476200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr6:145473200-145476600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:145475600-145478200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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