Variant report

Variant	rs1793915
Chromosome Location	chr12:48386577-48386578
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48373823..48376376-chr12:48383731..48387007,3	MCF-7	breast:
2	chr12:48382599..48384881-chr12:48386422..48387977,2	MCF-7	breast:
3	chr12:48384703..48387276-chr12:48389834..48391406,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1034762	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10783227	0.81[AMR][1000 genomes]
rs1621710	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1635526	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1635528	0.83[AMR][1000 genomes]
rs1635529	0.85[AMR][1000 genomes]
rs1635534	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1635535	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1635536	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1635537	0.89[ASN][1000 genomes]
rs1635544	0.85[ASN][1000 genomes]
rs1635546	0.85[ASN][1000 genomes]
rs1635547	0.85[ASN][1000 genomes]
rs1635550	0.87[AMR][1000 genomes]
rs1793911	0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1793912	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1793913	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1793917	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1793923	0.95[ASN][1000 genomes]
rs1793924	0.95[ASN][1000 genomes]
rs1793931	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1793933	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1793955	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1793956	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1859444	0.82[AMR][1000 genomes]
rs3803183	0.81[AMR][1000 genomes]
rs3803184	0.81[AMR][1000 genomes]
rs3825404	0.81[AMR][1000 genomes]
rs740024	0.89[ASN][1000 genomes]
rs917055	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1793915	RP1-228P16.1	cis	Skin Sun Exposed Lower leg	GTEx
rs1793915	ZNF641	cis	Whole Blood	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48376800-48391000	Weak transcription	Fetal Intestine Large	intestine
2	chr12:48381400-48386800	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:48381400-48388800	Weak transcription	Fetal Intestine Small	intestine
4	chr12:48382800-48394600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:48383000-48388400	Weak transcription	Psoas Muscle	Psoas
6	chr12:48383800-48393800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:48383800-48394400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:48384200-48387600	Enhancers	Fetal Lung	lung
9	chr12:48384400-48386600	Bivalent Enhancer	Fetal Stomach	stomach
10	chr12:48385200-48391600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:48385600-48389000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:48385600-48389600	Weak transcription	Right Atrium	heart
13	chr12:48385800-48387400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:48385800-48387400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:48385800-48389600	Weak transcription	Left Ventricle	heart
16	chr12:48385800-48389600	Weak transcription	Lung	lung
17	chr12:48386000-48389600	Weak transcription	Right Ventricle	heart
18	chr12:48386200-48387600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:48386400-48386600	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:48386400-48389800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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