Variant report

Variant	rs1793911
Chromosome Location	chr12:48387057-48387058
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11168337	0.86[EUR][1000 genomes]
rs1621710	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1635534	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1635535	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1635536	0.92[ASN][1000 genomes]
rs1635537	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1635544	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1635546	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1635547	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1635553	0.82[EUR][1000 genomes]
rs1793912	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1793913	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1793915	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1793917	0.92[ASN][1000 genomes]
rs1793923	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1793924	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3829736	0.86[EUR][1000 genomes]
rs740024	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs917055	0.92[ASN][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	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv899061	chr12:48360620-48389023	Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv519659	chr12:48366449-48389245	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48376800-48391000	Weak transcription	Fetal Intestine Large	intestine
2	chr12:48381400-48388800	Weak transcription	Fetal Intestine Small	intestine
3	chr12:48382800-48394600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:48383000-48388400	Weak transcription	Psoas Muscle	Psoas
5	chr12:48383800-48393800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:48383800-48394400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:48384200-48387600	Enhancers	Fetal Lung	lung
8	chr12:48385200-48391600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:48385600-48389000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:48385600-48389600	Weak transcription	Right Atrium	heart
11	chr12:48385800-48387400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:48385800-48387400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:48385800-48389600	Weak transcription	Left Ventricle	heart
14	chr12:48385800-48389600	Weak transcription	Lung	lung
15	chr12:48386000-48389600	Weak transcription	Right Ventricle	heart
16	chr12:48386200-48387600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:48386400-48389800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:48386800-48392800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:48387000-48391600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured 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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