Variant report

Variant	rs72858280
Chromosome Location	chr6:38718955-38718956
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11751371	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11756771	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192604	1.00[ASN][1000 genomes]
rs12192779	1.00[ASN][1000 genomes]
rs12192848	1.00[ASN][1000 genomes]
rs12193813	1.00[ASN][1000 genomes]
rs12194119	1.00[ASN][1000 genomes]
rs12197353	1.00[ASN][1000 genomes]
rs12197467	1.00[ASN][1000 genomes]
rs12206059	1.00[ASN][1000 genomes]
rs12209734	1.00[ASN][1000 genomes]
rs12215108	1.00[ASN][1000 genomes]
rs17552381	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17552881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17623162	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092550	1.00[ASN][1000 genomes]
rs4279429	1.00[ASN][1000 genomes]
rs45578845	1.00[ASN][1000 genomes]
rs55902132	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55933840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56093987	1.00[ASN][1000 genomes]
rs56148146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56246807	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56266437	1.00[ASN][1000 genomes]
rs56284095	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56323406	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62396392	1.00[ASN][1000 genomes]
rs62396394	1.00[ASN][1000 genomes]
rs62396399	1.00[ASN][1000 genomes]
rs62396403	1.00[ASN][1000 genomes]
rs62396404	1.00[ASN][1000 genomes]
rs62396406	1.00[ASN][1000 genomes]
rs62396408	1.00[ASN][1000 genomes]
rs6933930	1.00[ASN][1000 genomes]
rs72856585	1.00[ASN][1000 genomes]
rs72856596	1.00[ASN][1000 genomes]
rs72856597	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72856598	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72858234	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858240	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858250	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72858282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858286	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858288	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858299	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72859705	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7773144	1.00[ASN][1000 genomes]
rs991766	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv830642	chr6:38645056-38800657	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72858280	DNAH8	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38706200-38738600	Weak transcription	K562	blood
2	chr6:38718400-38719200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:38718800-38719400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:38718800-38719400	Enhancers	HMEC	breast

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