Variant report

Variant	rs1105026
Chromosome Location	chr12:117647701-117647702
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56709211	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61152712	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7301867	1.00[EUR][1000 genomes]
rs7308150	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7313396	1.00[EUR][1000 genomes]
rs73393695	0.92[ASN][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	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv510592	chr12:117618872-117684713	Bivalent/Poised TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	nsv560360	chr12:117641229-117650873	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	esv1846026	chr12:117641314-117650873	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv560374	chr12:117641786-117650873	Enhancers Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv560382	chr12:117641949-117650873	Enhancers Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117642200-117648000	Weak transcription	Right Atrium	heart
2	chr12:117645200-117655600	Weak transcription	NHEK	skin
3	chr12:117646200-117650800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr12:117646200-117650800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:117646400-117664400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:117646600-117650600	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:117647000-117649200	Enhancers	Liver	Liver
8	chr12:117647400-117648200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:117647600-117651200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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