Variant report

Variant	rs11742518
Chromosome Location	chr5:111930357-111930358
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10052730	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10052739	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10066425	0.92[ASN][1000 genomes]
rs10067709	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11747396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11750687	1.00[EUR][1000 genomes]
rs12110086	1.00[ASN][1000 genomes]
rs12516949	0.89[ASN][1000 genomes]
rs12518872	0.92[ASN][1000 genomes]
rs13185746	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073304	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073305	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073306	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];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	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4957653	0.93[ASN][1000 genomes]
rs4957654	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957655	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4957657	0.99[ASN][1000 genomes]
rs4958063	0.92[ASN][1000 genomes]
rs4958065	0.92[ASN][1000 genomes]
rs4958067	0.94[ASN][1000 genomes]
rs4958069	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62365791	0.99[ASN][1000 genomes]
rs6421845	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6594619	0.95[ASN][1000 genomes]
rs6594625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594627	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594628	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594629	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594630	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594631	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594632	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594633	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594635	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6594636	1.00[EUR][1000 genomes]
rs6594638	1.00[EUR][1000 genomes]
rs6594639	0.86[EUR][1000 genomes]
rs6594640	0.96[ASN][1000 genomes]
rs6863537	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6864143	0.89[ASN][1000 genomes]
rs6869830	0.99[EUR][1000 genomes]
rs6887003	0.86[EUR][1000 genomes]
rs6891162	1.00[EUR][1000 genomes]
rs6891533	1.00[EUR][1000 genomes]
rs7378752	0.88[ASN][1000 genomes]
rs7448340	1.00[ASN][1000 genomes]
rs7448452	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7448478	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7448522	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703825	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7710128	0.89[ASN][1000 genomes]
rs7713574	0.92[ASN][1000 genomes]
rs7713733	0.92[ASN][1000 genomes]
rs7717646	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7717938	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7733473	0.99[ASN][1000 genomes]
rs7737751	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111928600-111930800	Enhancers	Fetal Stomach	stomach
2	chr5:111929200-111930600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:111929400-111930800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:111929400-111932000	Enhancers	Fetal Kidney	kidney
5	chr5:111929600-111930400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:111929600-111930400	Enhancers	Fetal Lung	lung
7	chr5:111929600-111930600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:111929600-111930600	Enhancers	Rectal Smooth Muscle	rectum
9	chr5:111929600-111930800	Enhancers	Brain Angular Gyrus	brain
10	chr5:111929600-111930800	Enhancers	Colon Smooth Muscle	Colon
11	chr5:111929600-111931000	Enhancers	Fetal Brain Male	brain
12	chr5:111929600-111932200	Enhancers	Fetal Brain Female	brain
13	chr5:111929800-111930400	Flanking Active TSS	Brain Cingulate Gyrus	brain
14	chr5:111929800-111930400	Enhancers	Esophagus	oesophagus
15	chr5:111929800-111930400	Enhancers	Fetal Muscle Leg	muscle
16	chr5:111929800-111930600	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr5:111929800-111930600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr5:111930000-111930400	Active TSS	Brain Hippocampus Middle	brain
19	chr5:111930000-111931200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr5:111930200-111930400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:111930200-111930400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:111930200-111930400	Enhancers	Gastric	stomach
23	chr5:111930200-111930400	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr5:111930200-111930600	Enhancers	Brain Germinal Matrix	brain
25	chr5:111930200-111930600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:111930200-111930600	Flanking Active TSS	Brain Substantia Nigra	brain
27	chr5:111930200-111930600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr5:111930200-111930600	Enhancers	Fetal Muscle Trunk	muscle
29	chr5:111930200-111930600	Enhancers	Ovary	ovary
30	chr5:111930200-111930800	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr5:111930200-111935400	Enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links