Variant report

Variant	rs12110086
Chromosome Location	chr5:111930150-111930151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10052730	1.00[ASN][1000 genomes]
rs10052739	1.00[ASN][1000 genomes]
rs10066425	0.92[ASN][1000 genomes]
rs10067709	1.00[ASN][1000 genomes]
rs11742518	1.00[ASN][1000 genomes]
rs11747396	1.00[ASN][1000 genomes]
rs12516949	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12518872	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13185746	1.00[ASN][1000 genomes]
rs4073304	1.00[ASN][1000 genomes]
rs4073305	1.00[ASN][1000 genomes]
rs4073306	0.99[ASN][1000 genomes]
rs4246013	0.92[ASN][1000 genomes]
rs4362986	0.92[ASN][1000 genomes]
rs4415120	0.92[ASN][1000 genomes]
rs4469237	0.92[ASN][1000 genomes]
rs4957652	0.95[ASN][1000 genomes]
rs4957653	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4957654	1.00[ASN][1000 genomes]
rs4957655	1.00[ASN][1000 genomes]
rs4957657	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4958063	0.92[ASN][1000 genomes]
rs4958065	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4958067	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4958069	0.91[ASN][1000 genomes]
rs62365791	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62365805	0.97[EUR][1000 genomes]
rs62365806	0.91[EUR][1000 genomes]
rs6421845	0.97[ASN][1000 genomes]
rs6594619	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6594625	1.00[ASN][1000 genomes]
rs6594627	1.00[ASN][1000 genomes]
rs6594628	1.00[ASN][1000 genomes]
rs6594629	1.00[ASN][1000 genomes]
rs6594630	1.00[ASN][1000 genomes]
rs6594631	1.00[ASN][1000 genomes]
rs6594632	1.00[ASN][1000 genomes]
rs6594633	1.00[ASN][1000 genomes]
rs6594635	0.98[ASN][1000 genomes]
rs6594640	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6863537	1.00[ASN][1000 genomes]
rs6864143	0.89[ASN][1000 genomes]
rs7378752	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7448340	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7448452	1.00[ASN][1000 genomes]
rs7448478	0.99[ASN][1000 genomes]
rs7448522	1.00[ASN][1000 genomes]
rs7703825	1.00[ASN][1000 genomes]
rs7710128	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7713574	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7713733	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7717646	1.00[ASN][1000 genomes]
rs7717938	1.00[ASN][1000 genomes]
rs7733473	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7737751	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv20349	chr5:111915807-111944317	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111928600-111930800	Enhancers	Fetal Stomach	stomach
2	chr5:111929200-111930200	Enhancers	Brain Substantia Nigra	brain
3	chr5:111929200-111930600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:111929400-111930800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:111929400-111932000	Enhancers	Fetal Kidney	kidney
6	chr5:111929600-111930200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr5:111929600-111930200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:111929600-111930200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:111929600-111930400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:111929600-111930400	Enhancers	Fetal Lung	lung
11	chr5:111929600-111930600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:111929600-111930600	Enhancers	Rectal Smooth Muscle	rectum
13	chr5:111929600-111930800	Enhancers	Brain Angular Gyrus	brain
14	chr5:111929600-111930800	Enhancers	Colon Smooth Muscle	Colon
15	chr5:111929600-111931000	Enhancers	Fetal Brain Male	brain
16	chr5:111929600-111932200	Enhancers	Fetal Brain Female	brain
17	chr5:111929800-111930200	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr5:111929800-111930200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr5:111929800-111930200	Enhancers	Stomach Smooth Muscle	stomach
20	chr5:111929800-111930400	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr5:111929800-111930400	Enhancers	Esophagus	oesophagus
22	chr5:111929800-111930400	Enhancers	Fetal Muscle Leg	muscle
23	chr5:111929800-111930600	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr5:111929800-111930600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr5:111930000-111930400	Active TSS	Brain Hippocampus Middle	brain
26	chr5:111930000-111931200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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