Variant report

Variant	rs74051513
Chromosome Location	chr1:9546941-9546942
allele	G/T
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:13)

rs_ID	r²[population]
rs10159413	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11811820	1.00[AMR][1000 genomes]
rs55913306	1.00[AMR][1000 genomes]
rs56133747	1.00[AMR][1000 genomes]
rs57585081	1.00[AMR][1000 genomes]
rs6701659	1.00[AMR][1000 genomes]
rs74051506	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74051508	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74051509	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74051510	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74051540	1.00[AMR][1000 genomes]
rs74051551	1.00[AMR][1000 genomes]
rs74051552	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	nsv931984	chr1:8879337-9694749	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	570 gene(s)	inside rSNPs	diseases
2	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
3	nsv1003190	chr1:9382452-9554553	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv534850	chr1:9382452-9554553	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1013224	chr1:9441040-9699768	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv464283	chr1:9495571-9677853	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv545363	chr1:9495571-9677853	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr1:9526000-9555200	Weak transcription	Right Atrium	heart
2	chr1:9538800-9548600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:9540400-9550800	Weak transcription	Esophagus	oesophagus
4	chr1:9540400-9555000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:9543200-9548600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:9545000-9547400	Enhancers	Ovary	ovary
7	chr1:9546200-9547600	Enhancers	Fetal Lung	lung
8	chr1:9546600-9547200	Enhancers	Fetal Stomach	stomach
9	chr1:9546600-9547400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:9546600-9547400	Enhancers	Fetal Muscle Leg	muscle
11	chr1:9546800-9547400	Enhancers	Right Ventricle	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
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