Variant report

Variant	rs74145547
Chromosome Location	chr1:222929650-222929651
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]
rs17011702	1.00[AMR][1000 genomes]
rs17163347	1.00[AMR][1000 genomes]
rs17163458	1.00[AMR][1000 genomes]
rs17163479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17163502	1.00[AMR][1000 genomes]
rs74145517	1.00[AMR][1000 genomes]
rs74145518	1.00[AMR][1000 genomes]
rs74145541	1.00[AMR][1000 genomes]
rs74145543	1.00[AMR][1000 genomes]
rs74145544	1.00[AMR][1000 genomes]
rs74145549	1.00[AFR][1000 genomes]
rs74145550	1.00[AMR][1000 genomes]
rs74145551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74145552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74145553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74145556	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74145562	0.85[AFR][1000 genomes];1.00[AMR][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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222928000-222932400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:222928000-222932600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr1:222928000-222933800	Enhancers	Colon Smooth Muscle	Colon
4	chr1:222928400-222930600	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:222928400-222930800	Weak transcription	HSMMtube	muscle
6	chr1:222928400-222934200	Weak transcription	Primary B cells from cord blood	blood
7	chr1:222929200-222931200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:222929400-222930000	Weak transcription	Rectal Smooth Muscle	rectum

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

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