Variant report

Variant	rs74141924
Chromosome Location	chr1:226713973-226713974
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57093755	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60718314	0.96[AFR][1000 genomes]
rs60936647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73095702	0.93[AFR][1000 genomes]
rs73096940	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73096942	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7555496	1.00[AFR][1000 genomes];1.00[AMR][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	nsv832781	chr1:226570901-226750697	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226708000-226717600	Weak transcription	Right Atrium	heart
2	chr1:226708400-226714200	Weak transcription	Right Ventricle	heart
3	chr1:226708600-226714400	Weak transcription	Left Ventricle	heart
4	chr1:226709000-226714200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:226709000-226714400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:226710200-226714000	Weak transcription	Pancreas	Pancrea
7	chr1:226710400-226714200	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:226710400-226714600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:226712600-226717800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:226712800-226714000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:226713800-226714400	Enhancers	Skeletal Muscle Male	skeletal muscle

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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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