Variant report

Variant	rs1058726
Chromosome Location	chr9:94972966-94972967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94966366..94969198-chr9:94971038..94974978,3	MCF-7	breast:
2	chr9:94972713..94975511-chr9:94995305..94997135,2	K562	blood:
3	chr9:94972017..94974582-chr9:94993270..94995792,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	IARS	hsa-miR-16-5p	chr9:94972959-94972980
2	IARS	hsa-miR-424-5p	chr9:94972959-94972981

Variant related genes	Relation type
ENSG00000236115	Chromatin interaction
IARS	miRNA target site

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10125510	0.88[EUR][1000 genomes]
rs1058751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10733744	0.88[EUR][1000 genomes]
rs10761159	0.88[EUR][1000 genomes]
rs1144933	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1152760	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1152761	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1152762	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1175737	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1175923	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1175929	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1175930	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1175931	0.88[CEU][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11787696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11788610	0.83[EUR][1000 genomes]
rs11789578	0.91[CHB][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11790257	0.82[CHB][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11791931	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11792542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11793505	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11794966	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12555097	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2084289	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295939	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2398749	0.83[EUR][1000 genomes]
rs2761680	0.88[EUR][1000 genomes]
rs3894058	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs41280213	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41280215	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs472163	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4743862	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4743864	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4743866	0.87[CEU][hapmap];0.82[YRI][hapmap];0.83[EUR][1000 genomes]
rs4743867	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4743868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743871	0.92[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4744123	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4744124	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs501814	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs556155	0.87[CEU][hapmap];0.82[YRI][hapmap];0.83[EUR][1000 genomes]
rs557066	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55894730	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56110031	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56308715	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56374228	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6479421	0.88[EUR][1000 genomes]
rs7042199	0.88[EUR][1000 genomes]
rs72748400	0.83[EUR][1000 genomes]
rs72748402	0.83[EUR][1000 genomes]
rs7864453	0.88[EUR][1000 genomes]
rs895639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9409464	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9409465	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9409466	0.88[CEU][hapmap];0.87[YRI][hapmap];0.81[EUR][1000 genomes]
rs9409467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9409469	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9409659	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9409660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9409661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9409662	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9409663	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9409665	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9409666	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs944949	0.93[CEU][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94959400-94973200	Weak transcription	Pancreas	Pancrea
2	chr9:94966000-94973400	Weak transcription	Esophagus	oesophagus
3	chr9:94968800-94976800	Strong transcription	A549	lung
4	chr9:94969000-94975400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:94969600-94973400	Weak transcription	Small Intestine	intestine
6	chr9:94969600-94975000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:94969600-94976200	Strong transcription	NH-A	brain
8	chr9:94969600-94977000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:94969800-94975400	Strong transcription	Osteobl	bone
10	chr9:94969800-94976400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr9:94969800-94976800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr9:94970000-94976600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr9:94970200-94973000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr9:94970200-94974200	Strong transcription	Left Ventricle	heart
15	chr9:94970400-94975000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:94970400-94976000	Strong transcription	Hela-S3	cervix
17	chr9:94970400-94976400	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr9:94970400-94976600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr9:94970400-94976600	Strong transcription	Liver	Liver
20	chr9:94970400-94976600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr9:94970400-94976800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr9:94970400-94976800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr9:94970400-94977200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr9:94970400-94977800	Strong transcription	Primary T cells from cord blood	blood
25	chr9:94970600-94976400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr9:94970600-94976400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr9:94970600-94976400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr9:94970600-94976400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr9:94970600-94976600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:94970600-94976600	Strong transcription	HMEC	breast
31	chr9:94970800-94974000	Strong transcription	Placenta	Placenta
32	chr9:94970800-94975000	Strong transcription	Psoas Muscle	Psoas
33	chr9:94970800-94975200	Strong transcription	NHDF-Ad	bronchial
34	chr9:94970800-94975400	Strong transcription	Adipose Nuclei	Adipose
35	chr9:94970800-94975400	Strong transcription	NHLF	lung
36	chr9:94970800-94976000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
37	chr9:94970800-94976000	Strong transcription	HSMMtube	muscle
38	chr9:94970800-94976200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr9:94970800-94976400	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr9:94970800-94976400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr9:94970800-94976400	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr9:94970800-94976400	Strong transcription	Brain Substantia Nigra	brain
43	chr9:94970800-94976600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr9:94970800-94976600	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr9:94970800-94976600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr9:94970800-94976600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr9:94970800-94976600	Strong transcription	Brain Germinal Matrix	brain
48	chr9:94970800-94976600	Strong transcription	Brain Hippocampus Middle	brain
49	chr9:94970800-94976600	Strong transcription	Fetal Thymus	thymus
50	chr9:94970800-94976600	Strong transcription	Dnd41	blood

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