Variant report

Variant	rs547289
Chromosome Location	chr11:94135426-94135427
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr11:94135331-94135505	HepG2	liver:	n/a	n/a
2	FOXA1	chr11:94135417-94135894	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
GPR83	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 21 )

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

rs_ID	r²[population]
rs11020767	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12292294	0.80[EUR][1000 genomes]
rs1257774	0.80[EUR][1000 genomes]
rs13447646	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs512150	0.87[EUR][1000 genomes]
rs516381	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs521669	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs522596	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs529126	0.80[EUR][1000 genomes]
rs540514	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs552126	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs581002	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs584707	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs592068	0.80[EUR][1000 genomes]
rs598599	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs603937	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs607974	0.85[EUR][1000 genomes]
rs640627	0.83[EUR][1000 genomes]
rs663530	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs687109	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7110046	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523083	chr11:93962121-94150790	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv832233	chr11:93981434-94158471	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:21)

SNP	Gene	Cis/trans	Tissue	Source
rs547289	RP11-685N10.1	cis	Thyroid	GTEx
rs547289	MRE11A	cis	Artery Tibial	GTEx
rs547289	RP11-685N10.1	cis	Adipose Subcutaneous	GTEx
rs547289	MRE11A	cis	Nerve Tibial	GTEx
rs547289	MRE11A	cis	lung	GTEx
rs547289	MRE11A	cis	Esophagus Muscularis	GTEx
rs547289	RP11-685N10.1	cis	Muscle Skeletal	GTEx
rs547289	MRE11A	cis	Esophagus Mucosa	GTEx
rs547289	RP11-685N10.1	cis	Artery Tibial	GTEx
rs547289	RP11-685N10.1	cis	Esophagus Mucosa	GTEx
rs547289	RP11-685N10.1	cis	Skin Sun Exposed Lower leg	GTEx
rs547289	MRE11A	cis	Whole Blood	GTEx
rs547289	MRE11A	cis	Adipose Subcutaneous	GTEx
rs547289	MRE11A	cis	Thyroid	GTEx
rs547289	MRE11A	cis	Skin Sun Exposed Lower leg	GTEx
rs547289	MRE11A	cis	Stomach	GTEx
rs547289	MRE11A	Cis_1M	lymphoblastoid	RTeQTL
rs547289	RP11-685N10.1	cis	Heart Left Ventricle	GTEx
rs547289	RP11-685N10.1	cis	Esophagus Muscularis	GTEx
rs547289	RP11-685N10.1	cis	lung	GTEx
rs547289	RP11-685N10.1	cis	Nerve Tibial	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94133800-94135600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr11:94134400-94135600	Bivalent Enhancer	Liver	Liver
3	chr11:94135000-94135600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
4	chr11:94135000-94135800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:94135200-94135600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:94135200-94135600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
7	chr11:94135200-94135600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
8	chr11:94135200-94135800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
9	chr11:94135200-94135800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:94135200-94136000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:94135200-94136000	Enhancers	HepG2	liver
12	chr11:94135200-94161400	Weak transcription	Placenta	Placenta
13	chr11:94135200-94162200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr11:94135400-94135600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
15	chr11:94135400-94135600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:94135400-94135600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
17	chr11:94135400-94135800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:94135400-94135800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
19	chr11:94135400-94135800	Bivalent Enhancer	HMEC	breast
20	chr11:94135400-94135800	Bivalent Enhancer	NHEK	skin
21	chr11:94135400-94136000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links