Variant report

Variant	rs12305053
Chromosome Location	chr12:122930528-122930529
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12297174	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297513	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300062	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303070	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303304	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312090	1.00[AMR][1000 genomes]
rs12314651	1.00[AMR][1000 genomes]
rs12319914	1.00[AMR][1000 genomes]
rs12320418	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7294383	1.00[AMR][1000 genomes]
rs7311062	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7959187	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7966324	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7972719	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976224	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976580	1.00[AMR][1000 genomes]
rs7977242	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7980777	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv973945	chr12:122923254-122958354	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	8 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	chr12:122922800-122931200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:122922800-122931600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:122922800-122960400	Weak transcription	Right Atrium	heart
4	chr12:122923400-122931000	Weak transcription	Hela-S3	cervix
5	chr12:122926200-122930600	Weak transcription	HepG2	liver
6	chr12:122926400-122930600	Weak transcription	Placenta	Placenta

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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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