Variant report

Variant	rs12106311
Chromosome Location	chr21:40738620-40738621
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11911475	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13433458	0.81[ASN][1000 genomes]
rs1554933	0.81[ASN][1000 genomes]
rs1554934	0.92[ASN][1000 genomes]
rs2239384	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2836990	0.85[ASN][1000 genomes]
rs2836992	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28550626	0.82[ASN][1000 genomes]
rs28629334	0.81[ASN][1000 genomes]
rs3761372	0.81[ASN][1000 genomes]
rs4818027	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59805871	0.90[ASN][1000 genomes]
rs7279434	0.81[ASN][1000 genomes]
rs8132324	0.82[ASN][1000 genomes]
rs9974653	0.92[ASN][1000 genomes]
rs9983270	0.85[ASN][1000 genomes]
rs9983368	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9983594	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913744	chr21:40670167-40757973	Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv1059420	chr21:40684295-40745952	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	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
4	esv3338781	chr21:40738432-40739480	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3353356	chr21:40738446-40738640	Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12106311	SH3BGR	cis	Artery Tibial	GTEx
rs12106311	WRB	cis	Artery Tibial	GTEx
rs12106311	HMGN1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40736600-40741600	Weak transcription	K562	blood
2	chr21:40736800-40741800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr21:40737000-40741200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:40737400-40741800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr21:40738200-40740000	Weak transcription	Primary neutrophils fromperipheralblood	blood

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links