Variant report

Variant	rs256348
Chromosome Location	chr5:59168351-59168352
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1003218	0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs1003219	0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs10042020	0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs10066777	0.88[ASN][1000 genomes]
rs10514880	0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs13186506	0.82[JPT][hapmap]
rs1369286	0.91[ASN][1000 genomes]
rs154144	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159608	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159610	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159622	0.87[CEU][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs159624	0.86[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs159626	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16890200	0.83[ASN][1000 genomes]
rs16890269	0.82[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs16890276	0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs16890316	0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs173945	0.83[ASW][hapmap];0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.89[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs181924	0.82[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256350	0.87[CEU][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs256353	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2938784	1.00[LWK][hapmap];0.87[MKK][hapmap]
rs4235477	0.81[ASW][hapmap]
rs6450532	1.00[LWK][hapmap];1.00[MKK][hapmap]
rs6859121	0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs6868846	0.95[CEU][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6869459	1.00[LWK][hapmap];1.00[MKK][hapmap]
rs6889984	0.92[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018015	chr5:58889470-59532667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv537766	chr5:58889470-59532667	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv534614	chr5:58962510-59388525	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs256348	MIER3	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59160800-59189000	Weak transcription	Aorta	Aorta
2	chr5:59163200-59168600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:59164800-59172000	Enhancers	HSMM	muscle
4	chr5:59165000-59171000	Enhancers	HSMMtube	muscle
5	chr5:59165600-59168400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:59166000-59168600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:59166000-59168800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:59166000-59169000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:59167000-59172400	Enhancers	Hela-S3	cervix
10	chr5:59167200-59171000	Enhancers	Placenta Amnion	Placenta Amnion
11	chr5:59167600-59171200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:59167800-59169400	Enhancers	NHLF	lung
13	chr5:59167800-59171200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:59168000-59168600	Weak transcription	NH-A	brain
15	chr5:59168000-59169000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:59168000-59169200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:59168000-59170800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:59168200-59171000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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