Variant report

Variant	rs813226
Chromosome Location	chr6:24444911-24444912
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:24444100..24446602-chr6:24457686..24459822,2	K562	blood:
2	chr6:24438222..24440221-chr6:24443252..24446225,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1042303	0.92[ASN][1000 genomes]
rs11757514	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11758106	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1742280	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1772253	0.85[EUR][1000 genomes]
rs2753914	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2753922	0.87[EUR][1000 genomes]
rs2793422	0.87[EUR][1000 genomes]
rs793679	0.85[EUR][1000 genomes]
rs793690	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs793716	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026638	chr6:24347972-24475300	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs813226	ALDH5A1	cis	lung	GTEx
rs813226	GPLD1	cis	Muscle Skeletal	GTEx
rs813226	ALDH5A1	cis	Muscle Skeletal	GTEx

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24417400-24451800	Strong transcription	Liver	Liver
2	chr6:24421200-24448800	Weak transcription	Gastric	stomach
3	chr6:24421200-24459600	Weak transcription	Spleen	Spleen
4	chr6:24424000-24456600	Weak transcription	Ovary	ovary
5	chr6:24424400-24445800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr6:24426200-24446000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:24426400-24446000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:24427600-24445600	Weak transcription	Fetal Brain Female	brain
9	chr6:24427600-24456800	Weak transcription	Lung	lung
10	chr6:24427800-24467000	Weak transcription	Brain Germinal Matrix	brain
11	chr6:24428200-24449400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr6:24428800-24445000	Weak transcription	Psoas Muscle	Psoas
13	chr6:24429000-24447800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:24429000-24494200	Weak transcription	Primary B cells from cord blood	blood
15	chr6:24429200-24455600	Weak transcription	Brain Angular Gyrus	brain
16	chr6:24429400-24445000	Weak transcription	Brain Anterior Caudate	brain
17	chr6:24429400-24483800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:24429600-24455000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:24430800-24448400	Weak transcription	Brain Hippocampus Middle	brain
20	chr6:24432600-24463800	Weak transcription	Fetal Intestine Small	intestine
21	chr6:24433600-24451600	Weak transcription	Adipose Nuclei	Adipose
22	chr6:24437600-24455400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:24437800-24450600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr6:24437800-24459600	Weak transcription	Left Ventricle	heart
25	chr6:24438000-24464000	Weak transcription	Pancreas	Pancrea
26	chr6:24438200-24445400	Weak transcription	Aorta	Aorta
27	chr6:24438200-24447800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr6:24438200-24455600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:24438400-24445600	Weak transcription	Fetal Muscle Leg	muscle
30	chr6:24438400-24448600	Weak transcription	Right Ventricle	heart
31	chr6:24438400-24483200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:24438600-24459800	Weak transcription	Fetal Stomach	stomach
33	chr6:24438800-24469200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr6:24440400-24452000	Weak transcription	Primary T cells from cord blood	blood
35	chr6:24440600-24445400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr6:24441400-24452000	Weak transcription	Thymus	Thymus
37	chr6:24442000-24448000	Weak transcription	K562	blood
38	chr6:24442000-24452000	Weak transcription	Fetal Thymus	thymus
39	chr6:24442600-24445000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr6:24444000-24449200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:24444000-24458200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:24444200-24446000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr6:24444800-24445200	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links