Variant report

Variant	rs12407990
Chromosome Location	chr1:211724165-211724166
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11119770	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12082508	0.83[ASN][1000 genomes]
rs12092944	0.83[ASN][1000 genomes]
rs1867377	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs498954	0.83[ASN][1000 genomes]
rs9430071	0.81[AMR][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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211716600-211725000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:211720200-211726000	Enhancers	Fetal Intestine Small	intestine
3	chr1:211720800-211726000	Enhancers	Fetal Intestine Large	intestine
4	chr1:211722200-211725000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:211722600-211724400	Enhancers	K562	blood
6	chr1:211723000-211724400	Weak transcription	Placenta	Placenta
7	chr1:211723000-211725000	Enhancers	Hela-S3	cervix
8	chr1:211723000-211725200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:211723000-211725200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr1:211723200-211724200	Weak transcription	Fetal Thymus	thymus
11	chr1:211723200-211724800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:211723200-211725000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:211723200-211725400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:211723200-211725400	Weak transcription	Colon Smooth Muscle	Colon

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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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