Variant report

Variant	rs12323930
Chromosome Location	chr14:25112833-25112834
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10135076	0.92[EUR][1000 genomes]
rs10135223	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148494	0.91[ASN][1000 genomes]
rs10467736	0.85[EUR][1000 genomes]
rs10467737	0.84[EUR][1000 genomes]
rs17257110	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951590	0.85[EUR][1000 genomes]
rs1957520	0.85[EUR][1000 genomes]
rs2025213	0.85[EUR][1000 genomes]
rs2273843	0.84[EUR][1000 genomes]
rs4982984	0.85[EUR][1000 genomes]
rs4982986	0.87[EUR][1000 genomes]
rs4982987	0.85[EUR][1000 genomes]
rs71405867	0.83[EUR][1000 genomes]
rs7141222	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72681039	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8009072	0.85[EUR][1000 genomes]
rs9989226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv510631	chr14:25045183-25172311	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25112000-25117200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:25112400-25114400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:25112600-25113000	Enhancers	Primary T cells from cord blood	blood
4	chr14:25112600-25113200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:25112600-25115600	Enhancers	Fetal Thymus	thymus
6	chr14:25112800-25113400	Enhancers	Thymus	Thymus
7	chr14:25112800-25114400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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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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