Variant report

Variant	rs2441910
Chromosome Location	chr8:105217172-105217173
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10102063	0.85[EUR][1000 genomes]
rs1060441	0.96[CEU][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2441790	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2441794	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2441802	0.87[EUR][1000 genomes]
rs2441815	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2441818	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2441819	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2441821	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2441823	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2441824	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2441826	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2441827	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2441832	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2441850	0.85[EUR][1000 genomes]
rs2441851	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs2441885	0.97[EUR][1000 genomes]
rs2441895	0.84[EUR][1000 genomes]
rs2441896	0.85[EUR][1000 genomes]
rs2441902	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2441905	0.98[EUR][1000 genomes]
rs2441907	0.97[EUR][1000 genomes]
rs2511553	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511580	0.96[CEU][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2511585	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2511587	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2511590	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2511594	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2511595	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2511597	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2511598	0.87[EUR][1000 genomes]
rs2511602	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2511603	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2511605	0.87[EUR][1000 genomes]
rs2511606	0.82[EUR][1000 genomes]
rs2511609	0.86[EUR][1000 genomes]
rs2511626	0.86[EUR][1000 genomes]
rs2511640	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2511641	0.98[EUR][1000 genomes]
rs2511643	0.98[EUR][1000 genomes]
rs2511646	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2511648	0.96[EUR][1000 genomes]
rs2514631	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs2514632	0.86[EUR][1000 genomes]
rs2514640	0.85[EUR][1000 genomes]
rs2514645	0.85[EUR][1000 genomes]
rs2514652	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2514659	0.92[EUR][1000 genomes]
rs2514672	0.86[EUR][1000 genomes]
rs3099574	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4734750	0.87[ASN][1000 genomes]
rs750432	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1847227	chr8:105025912-105251147	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv891251	chr8:105054446-105283340	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv891252	chr8:105106882-105227985	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv831416	chr8:105137789-105296965	Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	esv2762762	chr8:105189986-105247833	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv972218	chr8:105212152-105220955	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105213200-105217600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:105213200-105218800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:105213400-105218600	Weak transcription	HMEC	breast
4	chr8:105216200-105217400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:105216200-105218800	Enhancers	NHEK	skin
6	chr8:105216400-105217400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:105216600-105219200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:105216800-105217600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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