Variant report

Variant	rs11823949
Chromosome Location	chr11:47723512-47723513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10838747	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10838748	0.86[ASN][1000 genomes]
rs11039342	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11039348	0.86[ASN][1000 genomes]
rs11039355	0.82[ASN][1000 genomes]
rs11602395	0.87[ASN][1000 genomes]
rs11604825	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12787112	0.84[ASN][1000 genomes]
rs7130758	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469858	chr11:47647515-47837172	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv832143	chr11:47700808-47883540	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs11823949	NDUFS3	Cis_1M	lymphoblastoid	RTeQTL
rs11823949	FNBP4	Cis_1M	lymphoblastoid	RTeQTL
rs11823949	C1QTNF4	cis	lung	GTEx
rs11823949	C1QTNF4	cis	Esophagus Mucosa	GTEx
rs11823949	C1QTNF4	cis	Muscle Skeletal	GTEx
rs11823949	C1QTNF4	cis	Whole Blood	GTEx
rs11823949	C1QTNF4	cis	Adipose Subcutaneous	GTEx
rs11823949	C1QTNF4	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47705600-47735600	Weak transcription	Primary B cells from cord blood	blood
2	chr11:47712000-47736000	Weak transcription	Fetal Intestine Small	intestine
3	chr11:47712400-47723800	Weak transcription	Liver	Liver
4	chr11:47722400-47735800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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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

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