Variant report

Variant	rs56233078
Chromosome Location	chr3:46511969-46511970
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10514713	0.83[EUR][1000 genomes]
rs10865941	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11706090	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12489117	0.81[EUR][1000 genomes]
rs12496623	0.83[EUR][1000 genomes]
rs12638228	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1402151	0.83[EUR][1000 genomes]
rs1520483	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2139634	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55950019	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6762703	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6763280	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs885485	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs885486	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014624	chr3:46463424-46549188	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1009892	chr3:46496775-46546918	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv536553	chr3:46496775-46546918	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46507400-46522400	Weak transcription	Gastric	stomach
2	chr3:46507600-46514200	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr3:46507800-46513400	Enhancers	Left Ventricle	heart
4	chr3:46509200-46513400	Enhancers	Psoas Muscle	Psoas
5	chr3:46509400-46514000	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr3:46509600-46512600	Enhancers	Right Ventricle	heart
7	chr3:46509800-46512000	Enhancers	Fetal Muscle Trunk	muscle
8	chr3:46510000-46512400	Enhancers	HSMMtube	muscle
9	chr3:46510600-46512000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr3:46510600-46512000	Enhancers	Adipose Nuclei	Adipose
11	chr3:46510600-46512000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr3:46510800-46513200	Enhancers	Pancreas	Pancrea
13	chr3:46511000-46512000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr3:46511000-46513600	Weak transcription	Primary B cells from cord blood	blood
15	chr3:46511200-46514600	Enhancers	Spleen	Spleen
16	chr3:46511400-46512000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:46511400-46512000	Enhancers	Lung	lung
18	chr3:46511600-46515400	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr3:46511800-46530200	Weak transcription	Right Atrium	heart

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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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