Variant report

Variant	rs12300423
Chromosome Location	chr12:63698266-63698267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10437962	1.00[AMR][1000 genomes]
rs1107023	1.00[AMR][1000 genomes]
rs11174929	1.00[AMR][1000 genomes]
rs11174945	1.00[AMR][1000 genomes]
rs12297735	1.00[AMR][1000 genomes]
rs12300351	0.90[AFR][1000 genomes]
rs12305453	1.00[AMR][1000 genomes]
rs12309887	1.00[AMR][1000 genomes]
rs12318068	1.00[AMR][1000 genomes]
rs12322829	0.81[AFR][1000 genomes]
rs1303183	1.00[AMR][1000 genomes]
rs3929414	1.00[AMR][1000 genomes]
rs478074	1.00[AMR][1000 genomes]
rs511720	1.00[AMR][1000 genomes]
rs7315546	0.93[AFR][1000 genomes]
rs7954967	0.81[AFR][1000 genomes];1.00[AMR][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	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1035736	chr12:63526274-63920372	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541510	chr12:63526274-63920372	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1052866	chr12:63562442-63879794	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv541511	chr12:63562442-63879794	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv832438	chr12:63571652-63745827	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv832439	chr12:63688083-63865226	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63696600-63698600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:63696600-63698800	Weak transcription	NHDF-Ad	bronchial
3	chr12:63696600-63702400	Weak transcription	Aorta	Aorta
4	chr12:63696800-63698600	Weak transcription	HMEC	breast
5	chr12:63696800-63698800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:63697200-63698400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:63697200-63698600	Weak transcription	NH-A	brain
8	chr12:63697200-63700200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:63697600-63701600	Weak transcription	Fetal Kidney	kidney
10	chr12:63697800-63698800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:63698000-63699000	Flanking Active TSS	Dnd41	blood

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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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