Variant report

Variant	rs12319883
Chromosome Location	chr12:67311832-67311833
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11176485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11176489	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12309092	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333038	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1053250	chr12:67067995-67381411	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1050547	chr12:67122154-67314886	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv541521	chr12:67122154-67314886	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1037144	chr12:67203280-67325187	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1044939	chr12:67207260-67377982	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1036984	chr12:67273098-67427543	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1054433	chr12:67302689-67357930	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv541523	chr12:67302689-67357930	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv521008	chr12:67305277-67322614	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67309400-67314800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:67309800-67316200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:67310000-67314000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:67310200-67313000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:67310200-67313000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:67310200-67318600	Weak transcription	Placenta	Placenta
7	chr12:67310400-67313000	Weak transcription	Primary T cells from cord blood	blood
8	chr12:67311000-67313000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:67311200-67312800	Weak transcription	HMEC	breast
10	chr12:67311200-67313000	Weak transcription	NHEK	skin
11	chr12:67311800-67312000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr12:67311800-67312000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:67311800-67312000	Enhancers	Esophagus	oesophagus

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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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