Variant report

Variant	rs73378919
Chromosome Location	chr12:76221329-76221330
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17115572	1.00[AMR][1000 genomes]
rs17115579	1.00[AMR][1000 genomes]
rs58840103	1.00[AMR][1000 genomes]
rs73376993	1.00[AMR][1000 genomes]
rs73377001	1.00[AMR][1000 genomes]
rs73378905	1.00[AMR][1000 genomes]
rs73380942	1.00[AFR][1000 genomes]
rs73380957	1.00[AFR][1000 genomes]
rs74109660	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv832463	chr12:76136551-76316703	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv899315	chr12:76163309-76385096	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1041730	chr12:76198863-76331900	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76215000-76223800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:76216600-76223800	Weak transcription	Fetal Lung	lung
3	chr12:76218600-76223400	Weak transcription	HepG2	liver
4	chr12:76220200-76225200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:76220200-76225200	Weak transcription	Hela-S3	cervix
6	chr12:76220200-76225200	Weak transcription	NH-A	brain
7	chr12:76220400-76225200	Weak transcription	Osteobl	bone
8	chr12:76220400-76230000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:76221000-76221400	ZNF genes & repeats	NHEK	skin
10	chr12:76221200-76225000	Weak transcription	NHDF-Ad	bronchial
11	chr12:76221200-76225200	Weak transcription	NHLF	lung
12	chr12:76221200-76228200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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