Variant report

Variant	rs11164112
Chromosome Location	chr2:95537622-95537623
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10165220	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10174668	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10180591	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11164111	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11883879	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28680439	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34087291	0.80[EUR][1000 genomes]
rs4854232	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4854233	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4854234	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4854235	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62146933	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs62146942	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	nsv1000661	chr2:95327875-95739468	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1005016	chr2:95327875-95914467	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv2759075	chr2:95358799-95620108	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11164112	AC073464.7	cis	Esophagus Mucosa	GTEx
rs11164112	CYP4F32P	cis	Esophagus Mucosa	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95534200-95549400	Weak transcription	Right Atrium	heart
2	chr2:95536200-95538200	ZNF genes & repeats	Lung	lung
3	chr2:95536400-95537800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr2:95536600-95537800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr2:95536600-95537800	Bivalent Enhancer	Fetal Lung	lung
6	chr2:95536600-95538000	Bivalent Enhancer	Placenta	Placenta
7	chr2:95536800-95537800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
8	chr2:95536800-95537800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:95536800-95537800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:95537200-95537800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:95537200-95537800	Enhancers	Pancreas	Pancrea
12	chr2:95537200-95538400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
13	chr2:95537400-95537800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr2:95537400-95537800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:95537400-95537800	Bivalent/Poised TSS	Fetal Brain Female	brain
16	chr2:95537400-95537800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr2:95537400-95537800	Enhancers	Gastric	stomach
18	chr2:95537600-95537800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:95537600-95537800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
20	chr2:95537600-95537800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:95537600-95537800	Bivalent/Poised TSS	A549	lung
22	chr2:95537600-95538000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

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