Variant report

Variant	rs2450554
Chromosome Location	chr8:95343780-95343781
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95342938..95344823-chr8:95354569..95356336,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10109060	0.82[EUR][1000 genomes]
rs1023766	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs1379246	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1580498	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1598713	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs16916788	0.80[TSI][hapmap]
rs1813167	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2046665	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2046666	0.93[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2099788	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2119460	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2246066	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.86[TSI][hapmap]
rs2291439	0.80[CEU][hapmap]
rs2445699	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2445721	0.89[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2445728	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2450556	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2450558	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.81[EUR][1000 genomes]
rs2450572	0.89[CEU][hapmap]
rs2450578	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2450580	1.00[CEU][hapmap]
rs2470718	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2470728	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2470731	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2470732	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2470735	0.80[EUR][1000 genomes]
rs2470739	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2470740	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2470742	0.89[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2470746	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2515098	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2515099	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2515100	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2515133	0.81[AFR][1000 genomes]
rs2515153	0.86[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.80[EUR][1000 genomes]
rs2515154	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2515155	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2515156	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2515157	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2515161	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2515165	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28413800	0.81[EUR][1000 genomes]
rs2919654	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs2921385	0.92[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap]
rs2921387	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2930967	0.85[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap]
rs2930969	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3098718	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3098725	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3099398	0.85[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap]
rs3099407	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs3099412	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs3102841	1.00[CHB][hapmap]
rs3133648	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs4735288	0.82[EUR][1000 genomes]
rs67639046	0.81[EUR][1000 genomes]
rs6997115	0.82[EUR][1000 genomes]
rs71504369	0.89[AMR][1000 genomes]
rs7824722	0.86[EUR][1000 genomes]
rs7831073	0.81[EUR][1000 genomes]
rs935052	0.92[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap]
rs957446	1.00[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95340400-95346400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:95343200-95343800	Enhancers	HepG2	liver
3	chr8:95343400-95344000	Enhancers	Liver	Liver
4	chr8:95343400-95344000	Enhancers	Fetal Intestine Small	intestine
5	chr8:95343600-95344000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr8:95343600-95344200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:95343600-95344200	Enhancers	A549	lung
8	chr8:95343600-95344800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr8:95343600-95345000	Enhancers	HMEC	breast

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