Variant report

Variant	rs4832282
Chromosome Location	chr2:86627661-86627662
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86626221..86628393-chr2:86840833..86842810,2	K562	blood:

Variant related genes	Relation type
ENSG00000239305	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10169091	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs10178917	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10180036	0.85[CHB][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes]
rs10208989	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10865481	0.96[CEU][hapmap]
rs11127034	0.84[ASN][1000 genomes]
rs1113169	1.00[ASN][1000 genomes]
rs12617075	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];1.00[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]
rs12714181	0.84[CEU][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12714183	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12714184	0.87[AMR][1000 genomes]
rs12714186	0.85[CHB][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.87[AMR][1000 genomes]
rs13034615	0.83[MKK][hapmap]
rs13035266	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13383096	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13420491	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1964089	0.85[EUR][1000 genomes]
rs2113607	1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[ASN][1000 genomes]
rs2292887	0.85[CHB][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.81[AMR][1000 genomes]
rs2367237	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4832278	0.87[CHD][hapmap];0.88[JPT][hapmap];0.83[MEX][hapmap];0.84[ASN][1000 genomes]
rs4832279	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4832280	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62150269	0.85[AMR][1000 genomes]
rs6547677	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6710124	0.92[CEU][hapmap]
rs6713586	0.82[CHB][hapmap];0.81[GIH][hapmap];0.87[MEX][hapmap]
rs6716701	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs766285	0.89[CEU][hapmap];0.94[JPT][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs908791	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs958561	0.85[CHB][hapmap];0.87[JPT][hapmap];0.92[MEX][hapmap];0.87[AMR][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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4832282	POLR1A	cis	cerebellum	SCAN
rs4832282	RNF103	cis	cerebellum	SCAN
rs4832282	VPS24	cis	parietal	SCAN
rs4832282	VPS24	Cis_1M	lymphoblastoid	RTeQTL
rs4832282	RMND5A	cis	cerebellum	SCAN
rs4832282	MRPL35	cis	parietal	SCAN
rs4832282	PTCD3	cis	cerebellum	SCAN
rs4832282	IMMT	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86621600-86631000	Weak transcription	Gastric	stomach
2	chr2:86625000-86628000	Enhancers	HSMMtube	muscle
3	chr2:86627000-86628000	Enhancers	Fetal Muscle Leg	muscle
4	chr2:86627200-86627800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:86627200-86627800	Enhancers	NH-A	brain
6	chr2:86627400-86627800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:86627600-86628200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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