Variant report

Variant	rs4875923
Chromosome Location	chr8:2006596-2006597
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13265964	0.92[ASN][1000 genomes]
rs1542063	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1542064	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1542065	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34757246	0.92[ASN][1000 genomes]
rs3779861	0.85[ASN][1000 genomes]
rs4875924	0.92[ASN][1000 genomes]
rs4875925	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4875926	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6558591	0.89[ASN][1000 genomes]
rs7461903	0.92[ASN][1000 genomes]
rs7833402	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7833424	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4875923	MYOM2	cis	Cerebellum	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2001000-2006600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
2	chr8:2002400-2010400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
3	chr8:2002600-2007000	Weak transcription	Psoas Muscle	Psoas
4	chr8:2003200-2007400	Genic enhancers	Fetal Muscle Leg	muscle
5	chr8:2005400-2006600	Enhancers	Fetal Muscle Trunk	muscle
6	chr8:2005400-2006800	Enhancers	Fetal Heart	heart
7	chr8:2005400-2007600	Genic enhancers	Right Ventricle	heart
8	chr8:2005800-2006800	Weak transcription	Right Atrium	heart
9	chr8:2005800-2009800	Weak transcription	Spleen	Spleen
10	chr8:2006000-2006800	Weak transcription	Left Ventricle	heart
11	chr8:2006000-2010000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:2006400-2007600	Enhancers	Stomach Mucosa	stomach

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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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