Variant report

Variant	rs2458280
Chromosome Location	chr8:103930583-103930584
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	chr8:103874124..103877156-chr8:103929505..103932868,5	K562	blood:

Variant related genes	Relation type
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10104995	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10955294	0.91[EUR][1000 genomes]
rs11776547	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11993347	0.91[EUR][1000 genomes]
rs1961102	0.84[ASN][1000 genomes]
rs2513875	0.87[EUR][1000 genomes]
rs2570949	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs522547	0.84[ASN][1000 genomes]
rs599777	0.83[ASN][1000 genomes]
rs608236	0.83[ASN][1000 genomes]
rs613049	0.84[ASN][1000 genomes]
rs613559	0.84[ASN][1000 genomes]
rs642004	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs644299	0.84[ASN][1000 genomes]
rs657000	0.84[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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv891246	chr8:103928940-103967694	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2458280	AZIN1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103922800-103930600	Weak transcription	Ovary	ovary
2	chr8:103923000-103931000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:103923000-103931000	Weak transcription	Brain Substantia Nigra	brain
4	chr8:103923000-103931600	Weak transcription	Fetal Stomach	stomach
5	chr8:103923000-103932000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:103923200-103931000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:103923200-103935800	Weak transcription	Fetal Lung	lung
8	chr8:103923400-103931200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:103923400-103932000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:103923600-103931200	Weak transcription	HMEC	breast
11	chr8:103923600-103931600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:103926000-103931800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:103926000-103932000	Weak transcription	Small Intestine	intestine
14	chr8:103926000-103932600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr8:103926200-103930800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:103926200-103931000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:103926400-103931000	Weak transcription	Aorta	Aorta
18	chr8:103926400-103931400	Weak transcription	Right Ventricle	heart
19	chr8:103926400-103932600	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:103926400-103937400	Weak transcription	Lung	lung
21	chr8:103926600-103931000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:103926600-103931000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr8:103926600-103936600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:103926800-103931000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:103926800-103931200	Weak transcription	Osteobl	bone
26	chr8:103926800-103931800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:103926800-103932600	Weak transcription	NHDF-Ad	bronchial
28	chr8:103927000-103931800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:103927200-103931000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:103927200-103931000	Weak transcription	Colon Smooth Muscle	Colon
31	chr8:103927800-103930600	Weak transcription	Right Atrium	heart
32	chr8:103927800-103939800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr8:103927800-103941600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:103928800-103933400	Enhancers	A549	lung
35	chr8:103929200-103933600	Enhancers	Fetal Heart	heart
36	chr8:103929200-103934800	Enhancers	Liver	Liver
37	chr8:103929400-103932200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr8:103929400-103933000	Enhancers	Pancreas	Pancrea
39	chr8:103929400-103934600	Enhancers	Adipose Nuclei	Adipose
40	chr8:103929600-103934600	Enhancers	Duodenum Mucosa	Duodenum
41	chr8:103929800-103932600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:103929800-103932800	Enhancers	Brain Anterior Caudate	brain
43	chr8:103929800-103933000	Enhancers	Fetal Brain Male	brain
44	chr8:103929800-103934200	Enhancers	Hela-S3	cervix
45	chr8:103930000-103930600	Enhancers	HepG2	liver
46	chr8:103930000-103931000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:103930000-103931800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:103930000-103931800	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr8:103930000-103932200	Weak transcription	Fetal Intestine Small	intestine
50	chr8:103930000-103932400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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