Variant report

Variant	rs10874467
Chromosome Location	chr2:95522747-95522748
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10165220	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10180591	0.81[ASN][1000 genomes]
rs11164111	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11883879	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12612789	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13414018	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2004626	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2077443	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28680439	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34087291	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4854231	0.94[EUR][1000 genomes]
rs4854232	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4854233	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4854234	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62146933	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6736042	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs749308	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[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
rs10874467	AC073464.7	cis	Esophagus Mucosa	GTEx
rs10874467	CYP4F32P	cis	Esophagus Mucosa	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95522400-95523000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:95522400-95523200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
3	chr2:95522400-95523600	Bivalent Enhancer	Fetal Brain Male	brain
4	chr2:95522400-95523800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr2:95522600-95522800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:95522600-95522800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:95522600-95522800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:95522600-95522800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:95522600-95522800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:95522600-95523000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:95522600-95523000	Bivalent Enhancer	Brain Hippocampus Middle	brain
12	chr2:95522600-95523000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
13	chr2:95522600-95523200	Enhancers	Lung	lung
14	chr2:95522600-95523200	Active TSS	Pancreas	Pancrea
15	chr2:95522600-95523400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:95522600-95523600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr2:95522600-95523800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr2:95522600-95523800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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

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