Variant report

Variant	rs4854247
Chromosome Location	chr2:95905658-95905659
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10195614	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1104775	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11164122	0.80[EUR][1000 genomes]
rs12992066	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1559483	0.80[EUR][1000 genomes]
rs17119148	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1862897	0.80[EUR][1000 genomes]
rs1875402	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1966272	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2001254	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2010533	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2042477	0.80[EUR][1000 genomes]
rs2098768	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2291991	0.81[EUR][1000 genomes]
rs2320339	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2320619	0.84[EUR][1000 genomes]
rs2320620	0.84[EUR][1000 genomes]
rs2320621	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2320624	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3105100	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3105101	0.85[EUR][1000 genomes]
rs3105102	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3105104	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3105105	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3112221	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3112222	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3112223	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3112225	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3112228	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3112229	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3112230	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3112231	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3112982	0.81[EUR][1000 genomes]
rs3112983	0.81[EUR][1000 genomes]
rs3112984	0.85[EUR][1000 genomes]
rs3112985	0.83[EUR][1000 genomes]
rs3112986	0.85[EUR][1000 genomes]
rs3112987	0.85[EUR][1000 genomes]
rs3112995	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3112996	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3112997	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3112999	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3113000	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3113001	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3755519	0.80[EUR][1000 genomes]
rs3755520	0.80[EUR][1000 genomes]
rs3755521	0.80[EUR][1000 genomes]
rs3755523	0.80[EUR][1000 genomes]
rs3755525	0.82[EUR][1000 genomes]
rs3772031	0.80[EUR][1000 genomes]
rs3772032	0.80[EUR][1000 genomes]
rs3772033	0.80[EUR][1000 genomes]
rs3772037	0.80[EUR][1000 genomes]
rs3772041	0.80[EUR][1000 genomes]
rs3772042	0.80[EUR][1000 genomes]
rs3772043	0.82[EUR][1000 genomes]
rs3772044	0.85[EUR][1000 genomes]
rs4283455	0.80[EUR][1000 genomes]
rs4854243	0.85[EUR][1000 genomes]
rs4854244	0.83[EUR][1000 genomes]
rs4854249	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6577012	0.80[EUR][1000 genomes]
rs6577013	0.80[EUR][1000 genomes]
rs6715813	0.80[EUR][1000 genomes]
rs6719098	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6723333	0.83[EUR][1000 genomes]
rs6725821	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6741001	0.80[EUR][1000 genomes]
rs6750542	0.80[EUR][1000 genomes]
rs7574862	0.80[EUR][1000 genomes]
rs7580685	0.80[EUR][1000 genomes]
rs7585473	0.86[EUR][1000 genomes]
rs7585914	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7586229	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7594144	0.80[EUR][1000 genomes]
rs872580	0.82[EUR][1000 genomes]
rs889851	0.80[EUR][1000 genomes]
rs889852	0.80[EUR][1000 genomes]
rs889853	0.80[EUR][1000 genomes]
rs9678800	0.80[EUR][1000 genomes]
rs9989786	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005016	chr2:95327875-95914467	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1008945	chr2:95745367-96062107	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1007627	chr2:95878031-95973743	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv535822	chr2:95878031-95973743	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv998370	chr2:95897299-96074071	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv535823	chr2:95897299-96074071	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95890600-95906200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:95905200-95906600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:95905200-95906800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:95905600-95906200	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links