Variant report

Variant	rs2332799
Chromosome Location	chr4:174958981-174958982
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:174952331..174954956-chr4:174955906..174959372,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10002337	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10004896	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10007379	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10028766	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10520266	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11724216	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11735098	0.84[EUR][1000 genomes]
rs12651065	0.83[EUR][1000 genomes]
rs13110635	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13110863	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13111991	0.82[EUR][1000 genomes]
rs13113162	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13119610	0.83[EUR][1000 genomes]
rs2217853	0.96[ASN][1000 genomes]
rs4235203	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4331759	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4362799	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4495020	0.85[EUR][1000 genomes]
rs4524361	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4524362	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4593104	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62336626	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs62336628	0.92[ASN][1000 genomes]
rs6815740	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7664899	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7674474	0.83[EUR][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	nsv830155	chr4:174943809-175136483	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2332799	ASB5	cis	parietal	SCAN
rs2332799	WDR67	trans	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174957200-174960200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:174957400-174959200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:174957600-174959000	Enhancers	NHDF-Ad	bronchial
4	chr4:174957600-174959200	Enhancers	Fetal Heart	heart
5	chr4:174958000-174959000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:174958600-174959000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:174958600-174959200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:174958600-174961800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:174958600-174962800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:174958800-174959000	Enhancers	Right Atrium	heart

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