Variant report

Variant	rs12310540
Chromosome Location	chr12:30039153-30039154
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10466814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12304858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12314833	1.00[AMR][1000 genomes]
rs2101263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73069881	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73069894	1.00[EUR][1000 genomes]
rs73069898	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73069900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071178	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071181	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73071202	1.00[EUR][1000 genomes]
rs73071616	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73072819	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073117	1.00[EUR][1000 genomes]
rs73073125	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73073197	1.00[EUR][1000 genomes]
rs73075104	1.00[EUR][1000 genomes]
rs73075111	1.00[EUR][1000 genomes]
rs73075116	1.00[EUR][1000 genomes]
rs73075118	1.00[EUR][1000 genomes]
rs73075125	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73079439	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv469191	chr12:29939628-30098770	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv557958	chr12:29939628-30098770	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv526146	chr12:29989292-30112823	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2758302	chr12:30023167-30175232	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2759889	chr12:30023167-30175232	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30036800-30039200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:30037000-30039400	Weak transcription	Fetal Heart	heart
3	chr12:30037800-30049400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:30038800-30039800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:30039000-30039200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
6	chr12:30039000-30039600	ZNF genes & repeats	hESC Derived CD184+ Endoderm 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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