Variant report

Variant	rs71324996
Chromosome Location	chr3:49834767-49834768
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:49828367..49831319-chr3:49832750..49837135,3	MCF-7	breast:
2	chr3:49822443..49824748-chr3:49834059..49836824,2	K562	blood:
3	chr3:49832962..49835911-chr3:49836765..49838796,2	K562	blood:
4	chr3:49828847..49830449-chr3:49834331..49837009,2	K562	blood:

Variant related genes	Relation type
ENSG00000187492	Chromatin interaction
ENSG00000176095	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10049413	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1049256	0.80[ASN][1000 genomes]
rs10865958	0.84[ASN][1000 genomes]
rs10865959	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11130214	0.83[EUR][1000 genomes]
rs11130216	0.83[EUR][1000 genomes]
rs11130221	0.80[ASN][1000 genomes]
rs1128535	0.84[ASN][1000 genomes]
rs11710675	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11714957	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11715304	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11717256	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11717463	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11920900	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12496226	0.81[EUR][1000 genomes]
rs13063621	0.80[ASN][1000 genomes]
rs13084243	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13085679	0.84[ASN][1000 genomes]
rs13086130	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13086465	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13090611	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1317140	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13316065	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1799843	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1799845	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2234385	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2234391	0.87[ASN][1000 genomes]
rs2246832	0.82[ASN][1000 genomes]
rs2247036	0.82[ASN][1000 genomes]
rs2271960	0.82[ASN][1000 genomes]
rs2271961	0.82[ASN][1000 genomes]
rs2276864	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2291542	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2307021	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2352967	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2352974	0.82[ASN][1000 genomes]
rs2352975	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34451146	0.80[ASN][1000 genomes]
rs34522271	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34735338	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35210174	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35261599	0.82[ASN][1000 genomes]
rs35474403	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3749237	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3749240	0.80[ASN][1000 genomes]
rs3749241	0.80[ASN][1000 genomes]
rs4519692	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4768	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57648519	0.80[ASN][1000 genomes]
rs59906301	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60205400	0.80[ASN][1000 genomes]
rs62260715	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62260719	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62260729	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6446295	0.82[ASN][1000 genomes]
rs6766836	0.80[ASN][1000 genomes]
rs6775384	0.84[ASN][1000 genomes]
rs6802890	0.83[ASN][1000 genomes]
rs6804655	0.83[EUR][1000 genomes]
rs695238	0.84[ASN][1000 genomes]
rs7431078	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7431106	0.80[ASN][1000 genomes]
rs7618501	0.81[ASN][1000 genomes]
rs7618519	0.82[ASN][1000 genomes]
rs7629936	0.89[ASN][1000 genomes]
rs7634902	0.80[ASN][1000 genomes]
rs7645061	0.84[ASN][1000 genomes]
rs7648987	0.84[ASN][1000 genomes]
rs7649348	0.82[ASN][1000 genomes]
rs9815766	0.80[ASN][1000 genomes]
rs9819511	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9850465	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9859153	0.80[ASN][1000 genomes]
rs9871654	0.82[ASN][1000 genomes]
rs9876508	0.82[ASN][1000 genomes]
rs9882639	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1796352	chr3:49687101-49949959	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1809827	chr3:49812331-49934179	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv876766	chr3:49817450-49961780	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs71324996	BSN-AS2	cis	Muscle Skeletal	GTEx
rs71324996	WDR6	cis	Whole Blood	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49825200-49836400	Weak transcription	Esophagus	oesophagus
2	chr3:49825600-49840000	Weak transcription	Spleen	Spleen
3	chr3:49833200-49838800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:49833400-49836800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:49833400-49838800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:49833600-49836600	Weak transcription	Placenta Amnion	Placenta Amnion

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