Variant report

Variant	rs730891
Chromosome Location	chr1:165133801-165133802
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10918133	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12128702	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17411098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57253462	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61800500	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61800515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61804372	0.95[AFR][1000 genomes]
rs6661213	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs730890	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74118549	1.00[ASN][1000 genomes]
rs7548311	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869712	chr1:164866810-165299085	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165130800-165142600	Weak transcription	Pancreas	Pancrea
2	chr1:165132400-165137800	Weak transcription	Placenta	Placenta
3	chr1:165132400-165143200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:165132600-165137600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:165132600-165137800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:165132800-165137600	Weak transcription	NHEK	skin
7	chr1:165133000-165137800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:165133200-165137800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:165133200-165137800	Weak transcription	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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