Variant report

Variant	rs1296318
Chromosome Location	chr3:59663669-59663670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1281465	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1281468	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1281469	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1297216	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1628081	0.99[EUR][1000 genomes]
rs1666071	0.96[EUR][1000 genomes]
rs1666072	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1672311	0.80[AMR][1000 genomes]
rs1672314	0.94[EUR][1000 genomes]
rs1672315	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1672316	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2166792	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6446076	0.87[AMR][1000 genomes];0.91[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	nsv876836	chr3:59500394-59664687	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv834706	chr3:59538151-59736014	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv998711	chr3:59542279-59704503	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59663000-59664000	Enhancers	Fetal Lung	lung
2	chr3:59663000-59665600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:59663200-59663800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr3:59663200-59664000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr3:59663200-59664200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:59663200-59667200	Enhancers	Fetal Muscle Leg	muscle
7	chr3:59663400-59664000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:59663400-59664600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:59663600-59664000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:59663600-59664000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:59663600-59664000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:59663600-59664000	Enhancers	Placenta	Placenta
13	chr3:59663600-59664200	Enhancers	HMEC	breast

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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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