Variant report

Variant	rs10468251
Chromosome Location	chr16:12042451-12042452
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:12040634..12043579-chr16:12069006..12072022,3	K562	blood:
2	chr16:12042157..12044609-chr16:12069694..12072152,2	MCF-7	breast:
3	chr16:12040634..12043075-chr16:12070522..12072619,2	K562	blood:

Variant related genes	Relation type
ENSG00000260488	Chromatin interaction
ENSG00000234719	Chromatin interaction
ENSG00000048471	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10451099	0.91[ASN][1000 genomes]
rs10852345	0.89[ASN][1000 genomes]
rs10852346	0.89[ASN][1000 genomes]
rs11075035	0.91[ASN][1000 genomes]
rs11075036	0.91[ASN][1000 genomes]
rs11075037	0.87[ASN][1000 genomes]
rs11075038	0.81[EUR][1000 genomes]
rs11570137	0.91[ASN][1000 genomes]
rs11570173	0.90[ASN][1000 genomes]
rs11864397	0.89[ASN][1000 genomes]
rs12597378	0.85[ASN][1000 genomes]
rs12926535	0.90[ASN][1000 genomes]
rs12927256	0.84[ASN][1000 genomes]
rs12928141	0.98[ASN][1000 genomes]
rs12929036	0.92[ASN][1000 genomes]
rs12929544	0.98[ASN][1000 genomes]
rs12929852	0.98[ASN][1000 genomes]
rs12933691	0.98[ASN][1000 genomes]
rs12934607	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2017662	0.89[ASN][1000 genomes]
rs2071336	0.81[EUR][1000 genomes]
rs35965279	0.88[ASN][1000 genomes]
rs365423	0.85[ASN][1000 genomes]
rs366262	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3743591	0.91[ASN][1000 genomes]
rs3851002	0.92[ASN][1000 genomes]
rs3851003	0.92[ASN][1000 genomes]
rs387871	0.84[ASN][1000 genomes]
rs3916675	0.89[ASN][1000 genomes]
rs57171695	0.95[ASN][1000 genomes]
rs58398910	0.89[ASN][1000 genomes]
rs59320000	0.89[ASN][1000 genomes]
rs6498255	0.98[ASN][1000 genomes]
rs6498256	0.92[ASN][1000 genomes]
rs6498257	0.92[ASN][1000 genomes]
rs7189024	0.98[ASN][1000 genomes]
rs7190636	0.92[ASN][1000 genomes]
rs7191310	0.92[ASN][1000 genomes]
rs7195514	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72782778	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8046211	0.89[ASN][1000 genomes]
rs8047277	0.89[ASN][1000 genomes]
rs8047663	0.81[EUR][1000 genomes]
rs8051343	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8055129	0.94[ASN][1000 genomes]
rs8060611	0.91[ASN][1000 genomes]
rs8062121	0.86[ASN][1000 genomes]
rs9922422	0.93[ASN][1000 genomes]
rs9922795	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv571458	chr16:11925008-12087282	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	esv3379697	chr16:12011449-12049700	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv482458	chr16:12014925-12145977	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr16:12040400-12065400	Weak transcription	Fetal Intestine Small	intestine
2	chr16:12040600-12042800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:12041600-12042600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr16:12042000-12043200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr16:12042000-12049200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:12042000-12049600	Weak transcription	A549	lung
7	chr16:12042200-12043200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr16:12042200-12043400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr16:12042200-12064400	Weak transcription	Fetal Stomach	stomach

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