Variant report

Variant	rs892485
Chromosome Location	chr8:103874622-103874623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10104704	0.97[ASN][1000 genomes]
rs1055376	0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10808382	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1434235	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs1714399	0.97[ASN][1000 genomes]
rs1806299	0.96[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1961102	0.95[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs1991927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2117313	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2164061	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs2256440	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs2304346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2436844	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs2436846	0.92[EUR][1000 genomes]
rs2436847	0.87[EUR][1000 genomes]
rs2436848	0.92[EUR][1000 genomes]
rs2436857	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2436865	0.88[EUR][1000 genomes]
rs2513898	0.92[EUR][1000 genomes]
rs2513910	0.92[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs2513913	0.91[EUR][1000 genomes]
rs2513916	0.90[EUR][1000 genomes]
rs2513918	0.91[EUR][1000 genomes]
rs2513919	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs2513921	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs2513922	0.96[CEU][hapmap];0.96[YRI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2513935	0.96[CEU][hapmap];0.91[YRI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2570939	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2570940	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2570942	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs2570944	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2570946	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2570948	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2570949	0.84[ASN][1000 genomes]
rs2679741	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2679742	0.84[AFR][1000 genomes]
rs2679744	0.99[ASN][1000 genomes]
rs2679746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2679748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2679749	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs2679751	0.93[EUR][1000 genomes]
rs2679752	0.96[CEU][hapmap];0.90[YRI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2679754	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2679755	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2679756	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2679757	0.93[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2679758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2679759	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2916558	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2916560	0.99[ASN][1000 genomes]
rs2916564	0.88[EUR][1000 genomes]
rs3018956	0.91[EUR][1000 genomes]
rs34655485	0.91[EUR][1000 genomes]
rs491770	0.97[ASN][1000 genomes]
rs492770	0.97[ASN][1000 genomes]
rs522547	0.84[ASN][1000 genomes]
rs551241	0.97[ASN][1000 genomes]
rs599777	0.96[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs601588	0.96[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs606335	0.96[ASN][1000 genomes]
rs608236	0.95[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs613049	0.95[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs613559	0.95[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs644299	0.96[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs647313	0.97[ASN][1000 genomes]
rs657000	0.84[ASN][1000 genomes]
rs667927	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6921	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7833202	0.96[CHB][hapmap];1.00[JPT][hapmap]
rs892484	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs892486	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972142	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs974759	0.91[EUR][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	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	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv891245	chr8:103838004-103907253	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv3445834	chr8:103874576-103877824	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs892485	AZIN1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103862400-103874800	Weak transcription	Aorta	Aorta
2	chr8:103862400-103874800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:103866800-103874800	Weak transcription	Lung	lung
4	chr8:103871600-103874800	Weak transcription	Stomach Mucosa	stomach
5	chr8:103872000-103874800	Weak transcription	Gastric	stomach
6	chr8:103872200-103874800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:103872200-103874800	Weak transcription	Esophagus	oesophagus
8	chr8:103872200-103874800	Weak transcription	Ovary	ovary
9	chr8:103872200-103874800	Active TSS	Right Atrium	heart
10	chr8:103872400-103877200	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr8:103872800-103874800	Enhancers	Primary B cells from peripheral blood	blood
12	chr8:103872800-103878000	Active TSS	H1 Cell Line	embryonic stem cell
13	chr8:103873000-103876800	Active TSS	Placenta	Placenta
14	chr8:103873000-103877600	Active TSS	GM12878-XiMat	blood
15	chr8:103873000-103877800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr8:103873200-103877400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:103873200-103877400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:103873200-103877400	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr8:103873400-103874800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:103873400-103874800	Enhancers	Left Ventricle	heart
21	chr8:103873400-103874800	Enhancers	Small Intestine	intestine
22	chr8:103873400-103877200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:103873400-103877200	Active TSS	Pancreas	Pancrea
24	chr8:103873400-103877400	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr8:103873400-103877400	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr8:103873400-103877600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:103873600-103874800	Active TSS	NHLF	lung
28	chr8:103873600-103875000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr8:103873600-103876200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:103873600-103877800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:103873800-103875200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
32	chr8:103873800-103875400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:103873800-103877000	Active TSS	HMEC	breast
34	chr8:103873800-103877400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:103873800-103877600	Active TSS	HSMM	muscle
36	chr8:103873800-103877800	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr8:103874000-103874800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr8:103874000-103875000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:103874000-103875000	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr8:103874000-103875600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:103874000-103877600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:103874200-103874800	Flanking Active TSS	Dnd41	blood
43	chr8:103874200-103874800	Flanking Active TSS	NH-A	brain
44	chr8:103874200-103874800	Flanking Active TSS	NHEK	skin
45	chr8:103874200-103875000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:103874200-103875000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:103874200-103875000	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr8:103874200-103875000	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr8:103874200-103875000	Enhancers	Spleen	Spleen
50	chr8:103874200-103875000	Flanking Active TSS	Hela-S3	cervix

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