Variant report

Variant	rs12297778
Chromosome Location	chr12:42909348-42909349
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12297081	1.00[EUR][1000 genomes]
rs12302804	1.00[EUR][1000 genomes]
rs12309609	1.00[EUR][1000 genomes]
rs12309863	1.00[EUR][1000 genomes]
rs12310608	0.83[AMR][1000 genomes]
rs12319444	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42885400-42913600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:42891000-42910200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:42898400-42914000	Weak transcription	NH-A	brain
4	chr12:42898400-42929000	Weak transcription	Fetal Kidney	kidney
5	chr12:42898600-42910400	Weak transcription	Fetal Stomach	stomach
6	chr12:42899000-42910000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:42901600-42940200	Weak transcription	Ovary	ovary
8	chr12:42903000-42913400	Weak transcription	HMEC	breast
9	chr12:42903400-42917800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:42903400-42917800	Weak transcription	HSMMtube	muscle
11	chr12:42904000-42910400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:42905000-42912000	Weak transcription	HUVEC	blood vessel
13	chr12:42906000-42910400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:42906000-42917000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:42906400-42913400	Weak transcription	Osteobl	bone
16	chr12:42907400-42909400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:42909000-42918800	Weak transcription	Lung	lung

Quick Search:

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

what's new

Quick links