Variant report

Variant	rs3944255
Chromosome Location	chr11:59030285-59030286
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11229896	0.81[AMR][1000 genomes]
rs11229898	0.80[AMR][1000 genomes]
rs11229899	0.80[AMR][1000 genomes]
rs11600401	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11606140	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11607278	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11607673	0.83[EUR][1000 genomes]
rs12419479	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1945593	0.81[AMR][1000 genomes]
rs2000478	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34697089	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4369428	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4938915	0.80[AMR][1000 genomes]
rs4939269	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5029315	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61689139	0.80[AMR][1000 genomes]
rs61903328	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6591509	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7113633	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7113936	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7131079	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7928981	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7942710	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7944135	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7944319	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7952377	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv1821250	chr11:58925860-59059179	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv3351601	chr11:58979308-59052763	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv3381199	chr11:59015574-59068938	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv3407952	chr11:59029926-59032724	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3944255	DTX4	cis	Esophagus Muscularis	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59024200-59030800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:59024200-59030800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:59028200-59034000	Weak transcription	GM12878-XiMat	blood
4	chr11:59028800-59030400	Enhancers	Fetal Muscle Trunk	muscle
5	chr11:59029800-59030400	Active TSS	Spleen	Spleen
6	chr11:59029800-59039000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr11:59029800-59040400	Enhancers	Primary B cells from cord blood	blood
8	chr11:59030000-59031200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr11:59030000-59031600	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr11:59030000-59035400	Enhancers	Primary B cells from peripheral blood	blood
11	chr11:59030200-59030400	Bivalent Enhancer	Fetal Muscle Leg	muscle

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