Variant report

Variant	rs2807849
Chromosome Location	chr1:221018190-221018191
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2642427	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2642431	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2642449	0.85[CEU][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2807840	0.85[CEU][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2807841	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2807846	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2807847	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr1:221015400-221018200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr1:221015600-221018200	Enhancers	Fetal Stomach	stomach
3	chr1:221015600-221018400	Enhancers	Fetal Heart	heart
4	chr1:221017400-221018200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:221017800-221018400	Enhancers	Right Atrium	heart
6	chr1:221018000-221018400	Enhancers	Right Ventricle	heart

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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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