Variant report

Variant	rs16929533
Chromosome Location	chr12:26008240-26008241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10842622	0.91[ASN][1000 genomes]
rs10842623	0.97[ASN][1000 genomes]
rs10842624	0.99[ASN][1000 genomes]
rs11048302	0.94[ASN][1000 genomes]
rs11048303	0.94[ASN][1000 genomes]
rs12230489	0.92[ASN][1000 genomes]
rs12306745	0.97[ASN][1000 genomes]
rs12313050	0.97[ASN][1000 genomes]
rs12582074	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1462717	0.99[ASN][1000 genomes]
rs16929496	0.93[ASN][1000 genomes]
rs16929543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16929569	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61539654	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66520255	0.94[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	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv522358	chr12:26006066-26013013	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26006600-26011400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:26007400-26008600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:26007800-26008400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:26007800-26008400	Enhancers	NHEK	skin
5	chr12:26008000-26008400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:26008000-26009000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:26008000-26009400	Enhancers	HUVEC	blood vessel
8	chr12:26008200-26009000	Enhancers	HMEC	breast
9	chr12:26008200-26009200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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