Variant report

Variant	rs4486403
Chromosome Location	chr1:70137551-70137552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10489553	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889845	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889846	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10889847	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11209508	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12023616	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12023624	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12023834	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12026446	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12041861	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12044761	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12047807	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12048889	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12048977	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1582204	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4440810	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72938920	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7512342	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515290	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525565	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525668	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs800930	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs800931	1.00[EUR][1000 genomes];1.00[ASN][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	nsv949691	chr1:69749722-70302201	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3384194	chr1:69885024-70275430	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830126	chr1:70014879-70167979	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70136000-70137600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:70136600-70139200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:70136800-70137600	Enhancers	Brain Angular Gyrus	brain
4	chr1:70136800-70137600	Enhancers	Right Atrium	heart
5	chr1:70136800-70137800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:70136800-70138600	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr1:70137000-70137800	Enhancers	Brain Cingulate Gyrus	brain
8	chr1:70137200-70137600	Flanking Active TSS	Brain Anterior Caudate	brain
9	chr1:70137200-70137600	Enhancers	NH-A	brain
10	chr1:70137200-70167400	Weak transcription	Fetal Brain Male	brain
11	chr1:70137400-70137800	Enhancers	Brain Hippocampus Middle	brain
12	chr1:70137400-70138400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:70137400-70138600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:70137400-70160400	Weak transcription	Fetal Brain Female	brain

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