Variant report

Variant	rs6113924
Chromosome Location	chr20:23046745-23046746
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13038379	0.85[CEU][hapmap];0.88[JPT][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1318041	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17682491	0.94[EUR][1000 genomes]
rs17682515	0.93[EUR][1000 genomes]
rs2896939	0.85[CEU][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4813477	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6106597	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6113911	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6113917	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6113921	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6113922	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8123616	0.85[CEU][hapmap];0.86[AMR][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	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23040200-23046800	Enhancers	Fetal Stomach	stomach
2	chr20:23043400-23063000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:23043600-23053000	Weak transcription	Ovary	ovary
4	chr20:23043600-23054000	Weak transcription	Lung	lung
5	chr20:23043600-23062200	Weak transcription	Placenta	Placenta
6	chr20:23043600-23066600	Weak transcription	Aorta	Aorta
7	chr20:23043800-23055200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr20:23044200-23047200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr20:23044800-23053000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr20:23045000-23051800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr20:23045400-23047000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr20:23045800-23046800	Enhancers	GM12878-XiMat	blood
13	chr20:23046000-23046800	Enhancers	Stomach Mucosa	stomach
14	chr20:23046200-23046800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr20:23046200-23047000	Enhancers	HepG2	liver
16	chr20:23046400-23047000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr20:23046400-23047400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr20:23046600-23052600	Weak transcription	Fetal Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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