Variant report

Variant	rs1904006
Chromosome Location	chr10:53809027-53809028
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12763723	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12766436	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12768368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12768701	0.87[EUR][1000 genomes];0.95[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	nsv1045692	chr10:53301450-54086823	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2750961	chr10:53726294-54010594	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv532194	chr10:53746620-54735550	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1040754	chr10:53758289-53845925	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1904006	MAPK8	cis	parietal	SCAN
rs1904006	PRKG1	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:53803800-53822800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr10:53804000-53822800	Weak transcription	Aorta	Aorta
3	chr10:53805800-53816800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:53805800-53824400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:53806600-53809800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr10:53806600-53811200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr10:53806600-53811400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr10:53806600-53816200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr10:53808400-53809200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr10:53808600-53810200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr10:53808800-53809800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr10:53809000-53809200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr10:53809000-53809800	Weak transcription	Psoas Muscle	Psoas

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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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