Variant report

Variant	rs1816279
Chromosome Location	chr4:148263974-148263975
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]
rs17474227	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2562864	0.86[ASN][1000 genomes]
rs2562885	0.89[ASN][1000 genomes]
rs2714885	1.00[ASN][1000 genomes]
rs2714893	0.96[ASN][1000 genomes]
rs2714896	0.96[ASN][1000 genomes]
rs4333163	0.89[ASN][1000 genomes]
rs62342965	0.82[ASN][1000 genomes]
rs62342966	0.82[ASN][1000 genomes]
rs62342967	0.82[ASN][1000 genomes]
rs62342970	0.82[ASN][1000 genomes]
rs62342993	0.89[ASN][1000 genomes]
rs62343017	0.89[ASN][1000 genomes]
rs62343027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1024629	chr4:147987351-148277008	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830108	chr4:148114652-148311104	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
3	nsv4540	chr4:148230593-148275778	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148262000-148272000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:148262400-148265400	Weak transcription	Brain Hippocampus Middle	brain
3	chr4:148262600-148270000	Weak transcription	Fetal Stomach	stomach

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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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