Variant report

Variant	rs6549266
Chromosome Location	chr3:70102730-70102731
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1021413	0.89[CHD][hapmap];0.94[JPT][hapmap]
rs1027233	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1027234	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1157456	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11923682	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11926368	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12495230	0.89[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1388649	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1491686	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1491695	0.85[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1491697	0.89[AFR][1000 genomes]
rs1491698	0.96[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes]
rs1492055	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1492056	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1546075	0.84[AMR][1000 genomes]
rs1873583	0.83[AMR][1000 genomes]
rs1873584	0.84[AMR][1000 genomes]
rs2131122	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2172211	0.84[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap]
rs28524674	0.84[AMR][1000 genomes]
rs3821364	0.84[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap]
rs4855453	0.89[CHD][hapmap];0.94[JPT][hapmap]
rs4855454	0.94[JPT][hapmap]
rs4855455	0.94[JPT][hapmap]
rs6549261	0.96[CEU][hapmap];0.89[CHB][hapmap];0.80[JPT][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes]
rs6549262	0.84[AMR][1000 genomes]
rs6549264	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6549265	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6549267	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6772684	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6784666	0.81[AMR][1000 genomes]
rs6809508	0.84[AMR][1000 genomes]
rs704246	0.89[CHD][hapmap];0.89[JPT][hapmap]
rs7619924	0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs7634340	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7634564	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7647661	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7651972	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9310178	0.96[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes]
rs9310179	0.96[CEU][hapmap];0.84[CHB][hapmap];0.88[GIH][hapmap];0.81[JPT][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9310180	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs956436	0.84[AMR][1000 genomes]
rs9809122	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9815287	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9834141	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9839734	0.84[AMR][1000 genomes]
rs9840397	0.84[AMR][1000 genomes]
rs9840590	0.84[AMR][1000 genomes]
rs9840951	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9849031	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9851891	0.92[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9863457	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9868203	0.84[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533396	chr3:69964029-70538306	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6549266	RP11-460N16.1	cis	Artery Aorta	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:70092000-70105000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:70098600-70103400	Weak transcription	Aorta	Aorta
3	chr3:70099600-70105000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr3:70101800-70103000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr3:70101800-70103400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr3:70102000-70103000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:70102200-70102800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:70102200-70103000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:70102200-70103000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr3:70102400-70102800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:70102400-70102800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:70102600-70105200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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