Variant report

Variant	rs2028946
Chromosome Location	chr8:105218549-105218550
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1156813	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1158644	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1374517	1.00[CEU][hapmap]
rs1374519	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1447063	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1447064	1.00[YRI][hapmap]
rs1447079	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1447080	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1447081	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1447082	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1470522	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1868015	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2121548	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2121553	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2121554	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2166641	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2166644	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2441792	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2441793	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2441797	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2441798	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2441799	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2441804	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2441810	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2441822	0.91[EUR][1000 genomes]
rs2441892	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2441897	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2441906	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511565	1.00[CEU][hapmap]
rs2511567	1.00[CEU][hapmap]
rs2511578	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511579	0.94[EUR][1000 genomes]
rs2511581	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2511582	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2511583	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2511592	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2511593	0.95[EUR][1000 genomes]
rs2511596	0.91[EUR][1000 genomes]
rs2511599	0.91[EUR][1000 genomes]
rs2511600	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2511601	0.91[EUR][1000 genomes]
rs2511647	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs994065	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][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	chr8:105213200-105218800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:105213400-105218600	Weak transcription	HMEC	breast
3	chr8:105216200-105218800	Enhancers	NHEK	skin
4	chr8:105216600-105219200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:105217600-105219000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:105217600-105219200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:105218200-105219200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:105218200-105219200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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