Variant report

Variant	rs60695198
Chromosome Location	chr12:117648667-117648668
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16947370	1.00[EUR][1000 genomes]
rs16947421	1.00[EUR][1000 genomes]
rs57657052	1.00[EUR][1000 genomes]
rs7960451	1.00[EUR][1000 genomes]
rs7961096	1.00[EUR][1000 genomes]
rs9658301	1.00[EUR][1000 genomes]
rs9658422	1.00[EUR][1000 genomes]
rs9658426	1.00[EUR][1000 genomes]
rs9658465	1.00[EUR][1000 genomes]
rs9658479	1.00[EUR][1000 genomes]
rs9658481	1.00[EUR][1000 genomes]
rs9658487	1.00[EUR][1000 genomes]
rs9658507	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	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117645200-117655600	Weak transcription	NHEK	skin
2	chr12:117646200-117650800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:117646200-117650800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:117646400-117664400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:117646600-117650600	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:117647000-117649200	Enhancers	Liver	Liver
7	chr12:117647600-117651200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:117648600-117650800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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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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