Variant report

Variant	rs13248852
Chromosome Location	chr8:61177793-61177794
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12542601	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12543911	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12708003	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13271624	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16926002	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35323112	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59550103	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73250004	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7461425	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7464602	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs899741	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv831333	chr8:61102862-61275122	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv890943	chr8:61134995-61225652	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13248852	RAB2A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61164200-61186600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:61167000-61180200	Weak transcription	Left Ventricle	heart
3	chr8:61167000-61193200	Weak transcription	Gastric	stomach
4	chr8:61167000-61193200	Weak transcription	Lung	lung
5	chr8:61167000-61193200	Weak transcription	Pancreas	Pancrea
6	chr8:61167600-61186400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr8:61170400-61178800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:61172600-61180600	Weak transcription	Placenta	Placenta
9	chr8:61172600-61185800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:61172800-61191200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:61173000-61187600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:61174600-61178400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:61174600-61178800	Strong transcription	Fetal Intestine Large	intestine
14	chr8:61174600-61186600	Strong transcription	K562	blood
15	chr8:61175000-61178200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:61175000-61178200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:61176800-61178000	Strong transcription	Fetal Stomach	stomach
18	chr8:61176800-61178000	Strong transcription	A549	lung
19	chr8:61177200-61179600	Weak transcription	Fetal Intestine Small	intestine
20	chr8:61177400-61178200	Strong transcription	Fetal Thymus	thymus

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