Variant report

Variant	rs573212
Chromosome Location	chr9:97349666-97349667
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:97315728..97317499-chr9:97347623..97350500,3	MCF-7	breast:
2	chr9:97314930..97317600-chr9:97349142..97351046,2	K562	blood:

Variant related genes	Relation type
ENSG00000231806	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12683407	0.81[AMR][1000 genomes]
rs12684849	0.81[AMR][1000 genomes]
rs2679604	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28369782	0.81[AMR][1000 genomes]
rs4574908	1.00[JPT][hapmap]
rs499480	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs532027	0.89[MKK][hapmap];0.88[AFR][1000 genomes]
rs7867069	0.88[CHD][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap];0.89[MKK][hapmap]

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	esv2761545	chr9:97025298-97356950	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1041195	chr9:97054795-97402378	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	esv1840205	chr9:97202200-97366400	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv893596	chr9:97321172-97598966	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv466436	chr9:97343620-97369149	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv614917	chr9:97343620-97369149	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs573212	IARS	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97317200-97354000	Weak transcription	Gastric	stomach
2	chr9:97346200-97351600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:97347400-97351200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr9:97347400-97353800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr9:97347600-97374000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr9:97348800-97349800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:97348800-97349800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr9:97348800-97349800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:97348800-97349800	Enhancers	Liver	Liver
10	chr9:97348800-97349800	Enhancers	Fetal Lung	lung
11	chr9:97348800-97350000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr9:97349000-97349800	Enhancers	Fetal Muscle Leg	muscle
13	chr9:97349000-97350000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:97349400-97349800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:97349400-97349800	Bivalent Enhancer	Adipose Nuclei	Adipose
16	chr9:97349400-97349800	Enhancers	HepG2	liver
17	chr9:97349400-97350000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:97349400-97350200	Enhancers	Placenta	Placenta
19	chr9:97349600-97349800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:97349600-97349800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr9:97349600-97349800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr9:97349600-97350000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr9:97349600-97350000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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