Variant report

Variant	rs2370579
Chromosome Location	chr1:193816713-193816714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12120678	0.84[EUR][1000 genomes]
rs12125008	0.91[EUR][1000 genomes]
rs12125561	0.92[EUR][1000 genomes]
rs12135685	0.93[EUR][1000 genomes]
rs12137476	0.92[EUR][1000 genomes]
rs12140410	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12142903	0.84[EUR][1000 genomes]
rs12742918	0.86[EUR][1000 genomes]
rs2025761	1.00[ASN][1000 genomes]
rs60435871	0.96[ASN][1000 genomes]
rs67066148	0.98[ASN][1000 genomes]
rs67572620	0.91[EUR][1000 genomes]
rs67898318	0.96[ASN][1000 genomes]
rs68114912	0.92[EUR][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	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3372415	chr1:193612172-193988265	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872832	chr1:193661626-193850407	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193815400-193816800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:193815800-193817200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:193815800-193817200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr1:193815800-193817200	Enhancers	Fetal Lung	lung
5	chr1:193816200-193816800	Enhancers	Brain Germinal Matrix	brain
6	chr1:193816200-193816800	Enhancers	NHEK	skin

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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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