Variant report

Variant	rs12123928
Chromosome Location	chr1:222121875-222121876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10218478	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118902	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12024555	0.81[EUR][1000 genomes]
rs12120034	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12124556	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125383	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126297	1.00[ASN][1000 genomes]
rs12137323	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140498	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12140529	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13375176	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17011141	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17011146	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6687758	0.80[EUR][1000 genomes]
rs6691195	0.80[EUR][1000 genomes]
rs6695584	0.80[EUR][1000 genomes]
rs72740077	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7520544	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs949618	0.87[AMR][1000 genomes];0.87[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	nsv945304	chr1:222114347-222131255	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12123928	RP11-815M8.1	cis	lung	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222115400-222131600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:222118800-222123000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:222121000-222122800	Enhancers	HMEC	breast
4	chr1:222121200-222122000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:222121200-222122200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:222121200-222122200	Enhancers	HSMM	muscle
7	chr1:222121200-222123400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:222121400-222122000	Enhancers	Esophagus	oesophagus
9	chr1:222121400-222122200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:222121800-222122000	Enhancers	Hela-S3	cervix
11	chr1:222121800-222123800	Enhancers	Adipose Nuclei	Adipose

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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