Variant report

Variant	rs72859705
Chromosome Location	chr6:38719315-38719316
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11756771	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17552881	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17623162	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55902132	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55933840	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56148146	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56246807	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56323406	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72858204	1.00[ASN][1000 genomes]
rs72858234	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72858240	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72858250	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858280	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72858282	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72858286	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72858288	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72858292	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72858299	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs991766	0.85[AMR][1000 genomes];0.86[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	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
rs72859705	DNAH8	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38706200-38738600	Weak transcription	K562	blood
2	chr6:38718800-38719400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:38718800-38719400	Enhancers	HMEC	breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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