Variant report

Variant	rs56407378
Chromosome Location	chr3:142803974-142803975
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142801559..142805670-chr3:142819651..142821823,3	K562	blood:
2	chr3:142802676..142805439-chr3:142837568..142839736,2	K562	blood:
3	chr3:142800593..142805495-chr3:142835136..142839068,6	K562	blood:

Variant related genes	Relation type
ENSG00000175040	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11914346	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11924590	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11925953	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11926643	0.93[EUR][1000 genomes]
rs11928485	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13327838	0.93[EUR][1000 genomes]
rs1531139	0.92[EUR][1000 genomes]
rs17633378	0.83[AMR][1000 genomes]
rs1869894	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2353403	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2353404	0.91[EUR][1000 genomes]
rs2353407	0.85[EUR][1000 genomes]
rs41374546	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55644607	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55874224	0.87[EUR][1000 genomes]
rs56022259	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56216546	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57654114	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58124018	0.94[ASN][1000 genomes]
rs59510635	0.84[EUR][1000 genomes]
rs62276932	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62276933	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73157700	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73867496	0.96[ASN][1000 genomes]
rs936198	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9821734	0.82[EUR][1000 genomes]
rs9834271	0.93[EUR][1000 genomes]
rs9846508	0.93[EUR][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	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv591921	chr3:142762487-142841740	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1004682	chr3:142768867-142804154	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142800600-142804600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:142802800-142804200	Enhancers	Spleen	Spleen
3	chr3:142803000-142804400	Enhancers	GM12878-XiMat	blood
4	chr3:142803600-142804000	Enhancers	Right Ventricle	heart
5	chr3:142803600-142804000	Flanking Active TSS	K562	blood
6	chr3:142803600-142804200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr3:142803600-142804400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:142803600-142804400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:142803600-142804400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:142803600-142804400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:142803600-142804400	Enhancers	HUVEC	blood vessel
12	chr3:142803800-142804000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr3:142803800-142804200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:142803800-142804200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr3:142803800-142804200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:142803800-142804200	Enhancers	Right Atrium	heart
17	chr3:142803800-142804400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:142803800-142804400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:142803800-142804400	Enhancers	Primary B cells from peripheral blood	blood
20	chr3:142803800-142804400	Enhancers	NHDF-Ad	bronchial

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