Variant report

Variant	rs74141293
Chromosome Location	chr1:221184310-221184311
allele	C/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]
rs1335925	1.00[AMR][1000 genomes]
rs1335926	1.00[AMR][1000 genomes]
rs56293922	1.00[AMR][1000 genomes]
rs58960299	1.00[AMR][1000 genomes]
rs59851594	1.00[AMR][1000 genomes]
rs60446380	1.00[AMR][1000 genomes]
rs73097489	1.00[AMR][1000 genomes]
rs73107111	1.00[AMR][1000 genomes]
rs74140841	1.00[AMR][1000 genomes]
rs74140843	1.00[AMR][1000 genomes]
rs74140844	1.00[AMR][1000 genomes]
rs74141254	1.00[AMR][1000 genomes]
rs74141255	1.00[AMR][1000 genomes]
rs74141256	1.00[AMR][1000 genomes]
rs74141257	1.00[AMR][1000 genomes]
rs7550673	1.00[AMR][1000 genomes]
rs945446	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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221183800-221185000	Enhancers	NHDF-Ad	bronchial
2	chr1:221184000-221184400	Enhancers	Aorta	Aorta
3	chr1:221184000-221185200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:221184000-221185200	Enhancers	Osteobl	bone
5	chr1:221184200-221184400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:221184200-221184600	Enhancers	HSMMtube	muscle
7	chr1:221184200-221184800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:221184200-221184800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:221184200-221184800	Enhancers	Fetal Heart	heart
10	chr1:221184200-221184800	Enhancers	Left Ventricle	heart
11	chr1:221184200-221185000	Enhancers	Fetal Muscle Leg	muscle
12	chr1:221184200-221185000	Enhancers	Right Ventricle	heart

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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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