Variant report

Variant	rs12748956
Chromosome Location	chr1:212698444-212698445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1021379	1.00[EUR][1000 genomes]
rs11119961	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11119966	0.98[EUR][1000 genomes]
rs11119969	0.81[EUR][1000 genomes]
rs12072138	0.87[EUR][1000 genomes]
rs12073156	0.90[EUR][1000 genomes]
rs12079249	0.98[EUR][1000 genomes]
rs12098184	0.96[EUR][1000 genomes]
rs1344329	0.86[EUR][1000 genomes]
rs17666978	0.98[EUR][1000 genomes]
rs2007776	0.95[EUR][1000 genomes]
rs6694870	0.81[EUR][1000 genomes]
rs71644402	0.98[EUR][1000 genomes]
rs7512568	0.98[EUR][1000 genomes]
rs7543564	0.98[EUR][1000 genomes]
rs766342	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs931449	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	nsv873162	chr1:212610755-212716033	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv527863	chr1:212617423-212700618	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
7	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212688600-212699400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:212689200-212699800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:212692600-212700000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:212698000-212699800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:212698200-212699600	Enhancers	Osteobl	bone
6	chr1:212698200-212699800	Enhancers	Placenta	Placenta
7	chr1:212698400-212699600	Enhancers	Right Atrium	heart
8	chr1:212698400-212699600	Enhancers	Right Ventricle	heart
9	chr1:212698400-212699800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:212698400-212699800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:212698400-212699800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:212698400-212699800	Enhancers	Left Ventricle	heart
13	chr1:212698400-212699800	Enhancers	HMEC	breast

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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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