Variant report

Variant	rs10043094
Chromosome Location	chr5:114919459-114919460
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10038493	0.82[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs10053572	0.88[CHB][hapmap];0.95[JPT][hapmap]
rs10055339	1.00[CEU][hapmap];0.88[GIH][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10069695	0.96[EUR][1000 genomes]
rs10073505	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10075869	0.83[EUR][1000 genomes]
rs10077239	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10079000	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1015812	0.87[ASN][1000 genomes]
rs13153908	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13184723	0.88[ASN][1000 genomes]
rs13357862	0.82[ASN][1000 genomes]
rs2032842	0.83[CHB][hapmap]
rs2052834	1.00[CEU][hapmap];0.93[GIH][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs2546484	0.88[CHB][hapmap];0.95[JPT][hapmap]
rs256938	0.88[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs256963	0.82[AMR][1000 genomes]
rs256965	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs256977	0.86[ASN][1000 genomes]
rs256989	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs256995	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs372702	0.88[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs56104517	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6860557	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs6893854	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs6894123	0.88[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs746566	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs766454	0.88[ASN][1000 genomes]
rs9326970	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10043094	CDO1	cis	lymphoblastoid	seeQTL
rs10043094	TICAM2	cis	cerebellum	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114901400-114922400	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:114910400-114925200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr5:114910400-114929400	Weak transcription	Adipose Nuclei	Adipose
4	chr5:114911200-114935600	Weak transcription	Gastric	stomach
5	chr5:114911800-114922400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:114912000-114924600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:114912200-114920400	Weak transcription	NHEK	skin
8	chr5:114912200-114921400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:114913000-114935200	Weak transcription	Aorta	Aorta
10	chr5:114913600-114924400	Weak transcription	Placenta	Placenta
11	chr5:114913800-114921000	Weak transcription	Fetal Lung	lung
12	chr5:114914400-114936200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:114914800-114937400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:114915200-114924600	Weak transcription	Primary B cells from cord blood	blood
15	chr5:114915400-114921400	Weak transcription	Brain Anterior Caudate	brain
16	chr5:114915600-114921200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr5:114915600-114924000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:114916400-114920400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:114916400-114921400	Weak transcription	Lung	lung
20	chr5:114917000-114921200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:114918400-114920400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:114918600-114919600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:114918600-114919800	Enhancers	GM12878-XiMat	blood
24	chr5:114918600-114919800	Enhancers	HSMMtube	muscle
25	chr5:114918600-114920400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:114918600-114920600	Enhancers	Osteobl	bone
27	chr5:114918600-114922800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:114918600-114922800	Enhancers	NHDF-Ad	bronchial
29	chr5:114918800-114919600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:114918800-114919800	Enhancers	NH-A	brain
31	chr5:114918800-114920000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:114918800-114920000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr5:114918800-114920200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:114919000-114920400	Genic enhancers	NHLF	lung
35	chr5:114919000-114921600	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr5:114919200-114919600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:114919200-114919600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr5:114919200-114919600	Enhancers	Left Ventricle	heart
39	chr5:114919200-114919600	Enhancers	Psoas Muscle	Psoas
40	chr5:114919200-114919600	Enhancers	Right Atrium	heart
41	chr5:114919200-114919600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr5:114919200-114919600	Enhancers	HUVEC	blood vessel
43	chr5:114919200-114920200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:114919200-114920400	Enhancers	HMEC	breast
45	chr5:114919200-114921600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr5:114919400-114919600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:114919400-114919600	Enhancers	Pancreas	Pancrea
48	chr5:114919400-114930000	Weak transcription	HSMM	muscle

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