Variant report

Variant	rs59550103
Chromosome Location	chr8:61186270-61186271
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12542601	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12543911	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12708003	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13248852	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13271624	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16926002	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16926008	1.00[AFR][1000 genomes]
rs35323112	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73250004	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7461425	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7464602	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs899741	0.88[EUR][1000 genomes];0.89[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
rs59550103	RAB2A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:19 , 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	chr8:61167000-61193200	Weak transcription	Gastric	stomach
3	chr8:61167000-61193200	Weak transcription	Lung	lung
4	chr8:61167000-61193200	Weak transcription	Pancreas	Pancrea
5	chr8:61167600-61186400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:61172800-61191200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr8:61173000-61187600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr8:61174600-61186600	Strong transcription	K562	blood
9	chr8:61178000-61191000	Weak transcription	Fetal Stomach	stomach
10	chr8:61179800-61191000	Weak transcription	Fetal Intestine Small	intestine
11	chr8:61182200-61186600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:61184800-61187000	Weak transcription	Brain Anterior Caudate	brain
13	chr8:61184800-61187000	Weak transcription	Fetal Intestine Large	intestine
14	chr8:61184800-61187400	Enhancers	Fetal Thymus	thymus
15	chr8:61184800-61190400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:61185200-61189000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:61185600-61186400	Genic enhancers	A549	lung
18	chr8:61185800-61187800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr8:61186200-61190800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links