Variant report

Variant	rs12819981
Chromosome Location	chr12:41386763-41386764
allele	C/G
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]
rs11830321	1.00[AMR][1000 genomes]
rs11832221	1.00[AMR][1000 genomes]
rs12831849	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs34016463	0.89[EUR][1000 genomes]
rs34063108	0.89[EUR][1000 genomes]
rs34770172	0.89[EUR][1000 genomes]
rs35067673	0.89[EUR][1000 genomes]
rs60319167	1.00[AMR][1000 genomes]
rs7136377	1.00[AMR][1000 genomes]
rs7970981	1.00[AMR][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	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv832382	chr12:41359550-41489681	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1042296	chr12:41372512-41401840	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv428587	chr12:41375635-41546845	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41374600-41404800	Weak transcription	Brain Angular Gyrus	brain
2	chr12:41383800-41388400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:41384600-41389400	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:41386000-41387800	Enhancers	NHEK	skin
5	chr12:41386200-41387600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:41386200-41387800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:41386400-41386800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:41386400-41387000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:41386600-41387000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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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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