Variant report

Variant	rs1944500
Chromosome Location	chr11:119875598-119875599
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119865550..119868461-chr11:119874925..119876802,2	K562	blood:

Variant related genes	Relation type
ENSG00000254863	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10892511	0.85[AFR][1000 genomes]
rs10892512	0.87[ASN][1000 genomes]
rs11217617	0.84[ASN][1000 genomes]
rs11217623	0.86[ASN][1000 genomes]
rs1944497	0.85[AFR][1000 genomes]
rs1944498	0.85[AFR][1000 genomes]
rs2155168	0.85[AFR][1000 genomes]
rs3740725	0.83[ASN][1000 genomes]
rs4482041	0.87[AFR][1000 genomes]
rs4938749	0.85[AFR][1000 genomes]
rs4938750	0.85[AFR][1000 genomes]
rs4938751	0.85[AFR][1000 genomes]
rs4938753	0.82[AFR][1000 genomes]
rs4938755	0.85[AFR][1000 genomes]
rs4938756	0.83[AFR][1000 genomes]
rs6589785	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7126918	0.86[AFR][1000 genomes]
rs7127194	0.86[AFR][1000 genomes]
rs874195	0.84[ASN][1000 genomes]
rs9787801	0.84[ASN][1000 genomes]
rs9787805	0.84[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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv832285	chr11:119789595-119957724	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1037777	chr11:119842515-119898368	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv541179	chr11:119842515-119898368	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1035918	chr11:119853069-119879255	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv524406	chr11:119873404-119893179	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1944500	SLC37A4	cis	brain	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119866400-119880200	Weak transcription	Esophagus	oesophagus
2	chr11:119871000-119877200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:119872200-119880200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:119873600-119879200	Weak transcription	Brain Anterior Caudate	brain
5	chr11:119875200-119875600	Enhancers	Stomach Mucosa	stomach
6	chr11:119875400-119875600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr11:119875400-119876200	Enhancers	HMEC	breast
8	chr11:119875400-119876400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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