Variant report

Variant	rs1444957
Chromosome Location	chr4:85377040-85377041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1017559	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10516722	0.87[AMR][1000 genomes]
rs11099643	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11725830	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11726182	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12642415	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12642612	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12644117	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12650684	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13121295	0.85[AMR][1000 genomes]
rs13125585	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13142585	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1444953	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1444956	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1444975	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1444978	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17008894	0.87[AMR][1000 genomes]
rs1822836	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1867545	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1867546	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1867547	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2028765	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28399961	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61714578	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6836500	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs752399	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs752401	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs752402	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs752403	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs763540	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7654114	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7657410	0.82[EUR][1000 genomes]
rs7658460	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7660161	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7684261	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7690203	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7698842	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs977463	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs988422	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs988423	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[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	nsv829997	chr4:85244076-85409405	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv829998	chr4:85299693-85473450	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1444957	C4orf22	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85376800-85377200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr4:85376800-85377200	Enhancers	Fetal Heart	heart
3	chr4:85376800-85377400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:85376800-85377400	Enhancers	Colon Smooth Muscle	Colon
5	chr4:85376800-85377600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:85376800-85377600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr4:85377000-85377200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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