Variant report

Variant	rs10483951
Chromosome Location	chr14:80924438-80924439
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10138515	0.83[ASN][1000 genomes]
rs10151034	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436273	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892902	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12894810	0.81[AMR][1000 genomes]
rs12895468	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12897856	0.84[AMR][1000 genomes]
rs17528984	0.82[AMR][1000 genomes]
rs34806974	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4903913	0.82[ASN][1000 genomes]
rs4903914	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4903915	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6574574	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6574575	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6574576	0.82[ASN][1000 genomes]
rs7145603	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8013875	0.88[AMR][1000 genomes];0.84[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	nsv902113	chr14:80172094-80929699	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv15289	chr14:80900600-80939903	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80921200-80925200	Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr14:80922200-80929200	Weak transcription	Fetal Muscle Leg	muscle
3	chr14:80923400-80941200	Weak transcription	HSMM	muscle
4	chr14:80923800-80924600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr14:80924400-80924800	Enhancers	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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