Variant report

Variant	rs74114542
Chromosome Location	chr1:119417297-119417298
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10494215	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10494216	1.00[ASN][1000 genomes]
rs1361208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1361209	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1416142	1.00[ASN][1000 genomes]
rs17022627	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17022643	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17022660	1.00[AMR][1000 genomes]
rs17022688	1.00[ASN][1000 genomes]
rs4623744	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55907232	1.00[ASN][1000 genomes]
rs56176006	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56809525	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56957037	1.00[ASN][1000 genomes]
rs58656176	1.00[ASN][1000 genomes]
rs58907106	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59731249	1.00[ASN][1000 genomes]
rs6655966	1.00[ASN][1000 genomes]
rs6660769	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6665851	1.00[ASN][1000 genomes]
rs73005657	1.00[ASN][1000 genomes]
rs73007524	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73007529	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73007534	1.00[ASN][1000 genomes]
rs74114545	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7532756	1.00[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	esv3494191	chr1:118772550-119719548	Enhancers Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv3494192	chr1:118772550-119719548	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv997707	chr1:119199568-119595949	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv831181	chr1:119340175-119529347	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr1:119414400-119424600	Weak transcription	HSMMtube	muscle
2	chr1:119414800-119418000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:119414800-119424600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:119414800-119429400	Weak transcription	Psoas Muscle	Psoas
5	chr1:119416600-119417400	Enhancers	Fetal Muscle Leg	muscle

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