Variant report

Variant	rs17818130
Chromosome Location	chr12:11782865-11782866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10491982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10491983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828371	1.00[ASN][1000 genomes]
rs2193030	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34866460	1.00[ASN][1000 genomes]
rs36125301	1.00[ASN][1000 genomes]
rs60761897	1.00[ASN][1000 genomes]
rs7135232	0.86[EUR][1000 genomes]
rs7312834	0.86[EUR][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	nsv898803	chr12:11757867-11794636	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv470267	chr12:11767406-11787989	Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11776600-11786400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:11777000-11788200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:11782000-11783000	Weak transcription	GM12878-XiMat	blood
4	chr12:11782200-11783200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:11782200-11783200	Enhancers	Fetal Muscle Trunk	muscle
6	chr12:11782400-11783000	Weak transcription	Pancreas	Pancrea
7	chr12:11782400-11783200	Weak transcription	Thymus	Thymus
8	chr12:11782400-11783600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:11782600-11783400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:11782600-11783600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr12:11782600-11783600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:11782600-11783800	Enhancers	Primary hematopoietic stem cells	blood
13	chr12:11782800-11783200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr12:11782800-11783200	Enhancers	Brain Germinal Matrix	brain
15	chr12:11782800-11783200	Enhancers	Fetal Lung	lung
16	chr12:11782800-11783400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:11782800-11783400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr12:11782800-11783600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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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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