Variant report

Variant	rs12137690
Chromosome Location	chr1:44959677-44959678
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12077687	1.00[EUR][1000 genomes]
rs12118877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12128224	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12136081	0.85[EUR][1000 genomes]
rs12140348	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12144435	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12722948	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35599252	0.91[EUR][1000 genomes]
rs6673706	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6700481	0.85[EUR][1000 genomes]
rs7354900	0.83[EUR][1000 genomes]
rs895094	0.85[EUR][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	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1010785	chr1:44407804-44974324	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv534938	chr1:44407804-44974324	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
5	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
6	nsv461395	chr1:44898998-45119965	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
7	nsv546144	chr1:44898998-45119965	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:44952000-44966200	Weak transcription	Right Atrium	heart
2	chr1:44952400-44960000	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:44952600-44961000	Weak transcription	Brain Substantia Nigra	brain
4	chr1:44952600-44961200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:44952800-44961600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:44955600-44963400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:44955800-44962400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:44956400-44963400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:44958000-44962800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:44958800-44960200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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