Variant report

Variant	rs613049
Chromosome Location	chr8:103931309-103931310
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:101754945..101755657-chr8:103930953..103931581,2	MCF-7	breast:
2	chr8:103875028..103877482-chr8:103931087..103934755,3	MCF-7	breast:
3	chr8:103926652..103929593-chr8:103930931..103933539,2	K562	blood:
4	chr8:103874124..103877156-chr8:103929505..103932868,5	K562	blood:
5	chr8:103874124..103876322-chr8:103930861..103932524,2	K562	blood:
6	chr8:103874643..103877584-chr8:103931125..103934060,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10104704	0.86[ASN][1000 genomes]
rs10808382	0.84[JPT][hapmap]
rs1138	0.95[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs1714399	0.86[ASN][1000 genomes]
rs1806299	1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs1961102	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1991927	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs2117313	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs2304346	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs2436857	0.85[JPT][hapmap]
rs2458280	0.84[ASN][1000 genomes]
rs2570940	0.95[CHB][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap]
rs2570944	0.83[ASN][1000 genomes]
rs2570946	0.82[ASN][1000 genomes]
rs2570948	0.83[ASN][1000 genomes]
rs2668877	0.80[ASN][1000 genomes]
rs2679741	0.95[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs2679744	0.84[ASN][1000 genomes]
rs2679746	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs2679748	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs2679758	0.95[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs2679759	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs2916558	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs2916560	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3018949	0.91[ASN][1000 genomes]
rs491770	0.86[ASN][1000 genomes]
rs492770	0.86[ASN][1000 genomes]
rs520393	0.90[ASN][1000 genomes]
rs522547	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551241	0.86[ASN][1000 genomes]
rs560038	0.91[ASN][1000 genomes]
rs575651	0.80[ASN][1000 genomes]
rs587946	0.91[CHD][hapmap]
rs599777	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs601588	1.00[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs606335	0.86[ASN][1000 genomes]
rs608236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs613559	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs642004	0.84[ASN][1000 genomes]
rs644299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647313	0.86[ASN][1000 genomes]
rs650987	0.91[ASN][1000 genomes]
rs657000	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs666830	0.90[ASN][1000 genomes]
rs667927	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs676498	0.82[ASN][1000 genomes]
rs7833202	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs892485	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs892486	0.95[CHB][hapmap];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
rs613049	AZIN1	cis	multi-tissue	Pritchard

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103923000-103931600	Weak transcription	Fetal Stomach	stomach
2	chr8:103923000-103932000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr8:103923200-103935800	Weak transcription	Fetal Lung	lung
4	chr8:103923400-103932000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:103923600-103931600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:103926000-103931800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:103926000-103932000	Weak transcription	Small Intestine	intestine
8	chr8:103926000-103932600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:103926400-103931400	Weak transcription	Right Ventricle	heart
10	chr8:103926400-103932600	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:103926400-103937400	Weak transcription	Lung	lung
12	chr8:103926600-103936600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:103926800-103931800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:103926800-103932600	Weak transcription	NHDF-Ad	bronchial
15	chr8:103927000-103931800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:103927800-103939800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:103927800-103941600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:103928800-103933400	Enhancers	A549	lung
19	chr8:103929200-103933600	Enhancers	Fetal Heart	heart
20	chr8:103929200-103934800	Enhancers	Liver	Liver
21	chr8:103929400-103932200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr8:103929400-103933000	Enhancers	Pancreas	Pancrea
23	chr8:103929400-103934600	Enhancers	Adipose Nuclei	Adipose
24	chr8:103929600-103934600	Enhancers	Duodenum Mucosa	Duodenum
25	chr8:103929800-103932600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:103929800-103932800	Enhancers	Brain Anterior Caudate	brain
27	chr8:103929800-103933000	Enhancers	Fetal Brain Male	brain
28	chr8:103929800-103934200	Enhancers	Hela-S3	cervix
29	chr8:103930000-103931800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:103930000-103931800	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr8:103930000-103932200	Weak transcription	Fetal Intestine Small	intestine
32	chr8:103930000-103932400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:103930000-103938000	Weak transcription	Gastric	stomach
34	chr8:103930200-103931800	Weak transcription	Left Ventricle	heart
35	chr8:103930200-103932400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr8:103930200-103932600	Weak transcription	Psoas Muscle	Psoas
37	chr8:103930800-103931400	Enhancers	Stomach Mucosa	stomach
38	chr8:103930800-103931800	Weak transcription	Placenta	Placenta
39	chr8:103930800-103932000	Enhancers	Brain Hippocampus Middle	brain
40	chr8:103930800-103932800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr8:103930800-103932800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr8:103931000-103931400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:103931000-103931400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:103931000-103931400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:103931000-103931600	Enhancers	Brain Substantia Nigra	brain
46	chr8:103931000-103931800	Enhancers	Colon Smooth Muscle	Colon
47	chr8:103931000-103932000	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr8:103931000-103932000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr8:103931000-103932400	Enhancers	Aorta	Aorta
50	chr8:103931000-103932600	Enhancers	Brain Cingulate Gyrus	brain

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