Variant report

Variant	rs6805481
Chromosome Location	chr3:150506351-150506352
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:150502035..150504861-chr3:150505439..150508243,2	K562	blood:
2	chr3:150478852..150484273-chr3:150500404..150509077,14	MCF-7	breast:
3	chr3:150504367..150507442-chr3:150579602..150583163,3	MCF-7	breast:
4	chr3:150478887..150482586-chr3:150504376..150507255,4	K562	blood:

Variant related genes	Relation type
ENSG00000181788	Chromatin interaction
ENSG00000244265	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1444197	1.00[CEU][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs1533711	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16862837	1.00[CEU][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16862842	1.00[CEU][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs1814463	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1814464	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1838337	0.81[EUR][1000 genomes]
rs1879420	1.00[CEU][hapmap]
rs1879421	1.00[CEU][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1879422	0.82[EUR][1000 genomes]
rs1915365	0.81[EUR][1000 genomes]
rs2014279	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2018246	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2116684	1.00[CEU][hapmap]
rs2116685	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2166061	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2869479	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34348847	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34771595	0.87[EUR][1000 genomes]
rs3851356	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41372346	1.00[CEU][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs41454348	1.00[CEU][hapmap]
rs55898202	0.85[ASN][1000 genomes]
rs57278175	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57869178	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58403524	0.81[EUR][1000 genomes]
rs60259684	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60523415	0.81[EUR][1000 genomes]
rs6440696	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6440697	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6440698	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6769917	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6777178	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6788895	1.00[CEU][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6789306	1.00[CEU][hapmap]
rs6795396	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6803830	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6806197	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71764080	0.81[EUR][1000 genomes]
rs72993403	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73003787	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73003792	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73005814	0.82[EUR][1000 genomes]
rs73010930	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73010941	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73010947	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73010956	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73010964	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73010965	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73010967	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73869297	0.87[EUR][1000 genomes]
rs7615125	1.00[CEU][hapmap]
rs7615292	1.00[CEU][hapmap]
rs7617507	0.88[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7628481	1.00[CEU][hapmap];0.80[JPT][hapmap];0.87[EUR][1000 genomes]
rs7628776	1.00[CEU][hapmap];0.80[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7636866	1.00[CEU][hapmap]

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	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6805481	EPM2AIP1	Cis_chr	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150505600-150506400	Enhancers	Brain Germinal Matrix	brain
2	chr3:150505800-150506400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr3:150505800-150506400	Enhancers	Liver	Liver
4	chr3:150505800-150506400	Enhancers	Fetal Brain Female	brain
5	chr3:150505800-150507600	Weak transcription	Placenta	Placenta
6	chr3:150506000-150506400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:150506000-150506400	Bivalent Enhancer	HepG2	liver

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