Variant report

Variant	rs2374530
Chromosome Location	chr12:106119482-106119483
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11837264	1.00[EUR][1000 genomes]
rs58941654	1.00[EUR][1000 genomes]
rs59436303	1.00[EUR][1000 genomes]
rs60658497	1.00[EUR][1000 genomes]
rs73399346	1.00[EUR][1000 genomes]
rs73399349	1.00[EUR][1000 genomes]
rs73399352	1.00[EUR][1000 genomes]
rs73399355	1.00[EUR][1000 genomes]
rs73399357	1.00[EUR][1000 genomes]
rs7969557	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv899503	chr12:106021477-106175903	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1047810	chr12:106067049-106246582	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1040261	chr12:106068992-106246582	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv899504	chr12:106095906-106135942	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106113800-106119600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:106113800-106119800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:106116800-106122000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:106117200-106122600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:106118000-106119600	Enhancers	Brain Anterior Caudate	brain
6	chr12:106118400-106119600	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:106118600-106120600	Weak transcription	Fetal Brain Female	brain
8	chr12:106119000-106123400	Weak transcription	HSMM	muscle
9	chr12:106119400-106124000	Weak transcription	HSMMtube	muscle

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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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