Variant report

Variant	rs60644316
Chromosome Location	chr2:48353450-48353451
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17037226	0.81[AFR][1000 genomes]
rs17039245	0.83[AFR][1000 genomes]
rs59044598	0.89[AFR][1000 genomes]
rs6709977	0.89[AFR][1000 genomes]
rs6723068	0.93[AFR][1000 genomes]
rs72883965	0.81[AFR][1000 genomes]
rs72883976	0.89[AFR][1000 genomes]
rs72883981	0.87[AFR][1000 genomes]
rs72885740	0.89[AFR][1000 genomes]
rs72885747	0.85[AFR][1000 genomes]
rs72885750	0.83[AFR][1000 genomes]
rs72885760	0.81[AFR][1000 genomes]
rs72885796	0.83[AFR][1000 genomes]
rs72885800	0.83[AFR][1000 genomes]
rs72885801	0.83[AFR][1000 genomes]
rs7606543	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription 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	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer 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	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1000455	chr2:48202161-48362638	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv581773	chr2:48277490-48443109	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48349000-48354600	Weak transcription	K562	blood
2	chr2:48350800-48353600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr2:48351600-48353600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:48352000-48354000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:48352000-48354000	Enhancers	Adipose Nuclei	Adipose
6	chr2:48352200-48355800	Weak transcription	HSMMtube	muscle
7	chr2:48352200-48356400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:48352600-48353800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr2:48353000-48354000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:48353200-48353600	Enhancers	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
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