Variant report

Variant	rs74127942
Chromosome Location	chr1:152409776-152409777
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56106510	1.00[AMR][1000 genomes]
rs56244386	1.00[AMR][1000 genomes]
rs57272962	1.00[AMR][1000 genomes]
rs57760863	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58823849	1.00[AMR][1000 genomes]
rs60709044	1.00[AMR][1000 genomes]
rs61705633	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74127917	1.00[AMR][1000 genomes]
rs74127918	1.00[AMR][1000 genomes]
rs74129414	1.00[AMR][1000 genomes]
rs74129429	1.00[AMR][1000 genomes]
rs74129447	1.00[AMR][1000 genomes]
rs74129458	1.00[AMR][1000 genomes]
rs74129459	1.00[AMR][1000 genomes]
rs74129463	1.00[AMR][1000 genomes]
rs74129464	1.00[AMR][1000 genomes]
rs74129466	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1005472	chr1:152247763-152443448	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv535161	chr1:152247763-152443448	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv916016	chr1:152337775-152590520	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv872443	chr1:152400055-152459747	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv872444	chr1:152400361-152440753	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv824664	chr1:152409024-152434443	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152408400-152410800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:152408600-152410400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:152408600-152410400	Enhancers	HMEC	breast
4	chr1:152408600-152410600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:152408600-152410800	Enhancers	NHEK	skin
6	chr1:152408800-152409800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:152408800-152409800	Enhancers	HSMM	muscle
8	chr1:152409200-152410200	Enhancers	HSMMtube	muscle
9	chr1:152409400-152409800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:152409400-152409800	Enhancers	NHDF-Ad	bronchial
11	chr1:152409400-152410000	Enhancers	Stomach Mucosa	stomach
12	chr1:152409400-152414800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:152409600-152414600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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