Variant report

Variant	rs4818051
Chromosome Location	chr21:40912353-40912354
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1006601	0.80[AMR][1000 genomes]
rs1007351	0.82[AMR][1000 genomes]
rs11088481	0.82[AMR][1000 genomes]
rs11088484	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12626648	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12626661	0.92[ASN][1000 genomes]
rs2837075	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28644269	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3916994	0.82[AMR][1000 genomes]
rs4372991	0.83[ASN][1000 genomes]
rs516888	0.91[ASN][1000 genomes]
rs517871	0.91[ASN][1000 genomes]
rs521559	0.91[ASN][1000 genomes]
rs527987	0.84[ASN][1000 genomes]
rs56178310	0.81[ASN][1000 genomes]
rs574863	0.92[ASN][1000 genomes]
rs587935	0.91[ASN][1000 genomes]
rs588903	0.92[ASN][1000 genomes]
rs619766	0.92[ASN][1000 genomes]
rs656582	0.82[ASN][1000 genomes]
rs656618	0.86[ASN][1000 genomes]
rs670316	0.85[ASN][1000 genomes]
rs680944	0.91[ASN][1000 genomes]
rs681447	0.91[ASN][1000 genomes]
rs7281149	0.82[AMR][1000 genomes]
rs7283356	0.82[AMR][1000 genomes]
rs7410119	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8127424	0.87[ASN][1000 genomes]
rs8128108	0.87[ASN][1000 genomes]
rs8130455	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9983116	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer 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 miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1062088	chr21:40838027-40919253	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2756754	chr21:40857523-40966156	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2758820	chr21:40857523-40966156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv34779	chr21:40884871-40977473	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv433457	chr21:40900348-40964553	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1057956	chr21:40907707-41393396	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv544444	chr21:40907707-41393396	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4818051	WRB	cis	Adipose Subcutaneous	GTEx
rs4818051	LCA5L	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40910400-40912800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr21:40910600-40914000	Weak transcription	Stomach Mucosa	stomach
3	chr21:40910800-40912600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr21:40910800-40913400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr21:40911000-40914400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr21:40911000-40914600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr21:40911200-40912600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:40912200-40914000	Weak transcription	Rectal Mucosa Donor 31	rectum

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