Variant report

Variant	rs1793955
Chromosome Location	chr12:48393106-48393107
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:48392960-48393110	SAEC	small airway:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:48392370..48394722-chr12:48397446..48401400,3	K562	blood:
2	chr12:48392370..48394865-chr12:48396464..48400282,3	K562	blood:
3	chr12:48375572..48377835-chr12:48392669..48394961,2	MCF-7	breast:

Variant related genes	Relation type
COL2A1	TF binding region
ENSG00000139219	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1034762	0.88[EUR][1000 genomes]
rs10783226	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10783227	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11612578	0.81[EUR][1000 genomes]
rs1635526	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1635528	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1635529	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1635534	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1635535	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1635536	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1635550	0.82[AMR][1000 genomes]
rs1793912	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1793913	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1793915	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1793917	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1793931	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1793933	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1793956	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1859441	0.80[EUR][1000 genomes]
rs1859444	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1990029	0.85[EUR][1000 genomes]
rs3803182	0.81[AMR][1000 genomes]
rs3803183	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3803184	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3825404	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6580647	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6580649	0.82[EUR][1000 genomes]
rs7132668	0.83[EUR][1000 genomes]
rs72644841	0.81[EUR][1000 genomes]
rs7305954	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs917055	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9651993	0.85[EUR][1000 genomes]
rs9805048	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1793955	ZNF641	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48382800-48394600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:48383800-48393800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:48383800-48394400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:48390000-48395000	Weak transcription	Right Atrium	heart
5	chr12:48390400-48394600	Weak transcription	Left Ventricle	heart
6	chr12:48390400-48394600	Weak transcription	Right Ventricle	heart
7	chr12:48391200-48394600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:48391600-48393200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:48391600-48394600	Weak transcription	Placenta	Placenta
10	chr12:48392800-48393800	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:48392800-48394000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:48392800-48394200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:48393000-48393400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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