Variant report

Variant	rs1462718
Chromosome Location	chr12:26013013-26013014
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10505984	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842626	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842627	0.85[AFR][1000 genomes]
rs11048299	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11048302	0.83[AFR][1000 genomes]
rs11048304	0.81[AFR][1000 genomes]
rs11048306	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048309	0.82[AFR][1000 genomes]
rs1462717	0.90[AFR][1000 genomes]
rs1462719	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26009000-26015800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:26009000-26017000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:26011800-26013800	Enhancers	Primary T cells from cord blood	blood
4	chr12:26012200-26013800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr12:26012200-26013800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:26012200-26014000	Enhancers	Fetal Thymus	thymus
7	chr12:26012400-26013200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr12:26012400-26013400	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr12:26012400-26013400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:26012600-26013400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:26012800-26014000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:26013000-26013400	Enhancers	NHEK	skin
13	chr12:26013000-26018800	Weak transcription	Placenta	Placenta

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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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