Variant report

Variant	rs55894137
Chromosome Location	chr12:48555821-48555822
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	CUX1	chr12:48555775-48555911	K562	blood:	n/a	n/a

Variant related genes	Relation type
ASB8	TF binding region
ENSG00000258051	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1004746	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1004806	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10506276	0.84[EUR][1000 genomes]
rs10506277	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11830378	0.84[EUR][1000 genomes]
rs17122802	0.84[EUR][1000 genomes]
rs17224674	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17224828	0.84[EUR][1000 genomes]
rs17225261	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17225366	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17225751	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17607800	0.87[AFR][1000 genomes]
rs17823193	0.84[EUR][1000 genomes]
rs17824200	0.89[AMR][1000 genomes]
rs2228501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3936179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4075914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41291959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41291961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55682541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55707383	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs55752728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55794326	0.89[AMR][1000 genomes]
rs55886138	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55890195	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55945889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55953382	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs56049209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56116946	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56187356	1.00[EUR][1000 genomes]
rs56205628	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56288528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56378908	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73304917	0.86[EUR][1000 genomes]
rs74089155	1.00[EUR][1000 genomes]
rs74089159	0.88[EUR][1000 genomes]
rs74089163	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv508673	chr12:48489786-48567138	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55894137	ZNF641	cis	Whole Blood	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48552000-48556600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:48552000-48557800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:48552200-48556600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr12:48552800-48556000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr12:48554600-48556000	Enhancers	K562	blood
6	chr12:48554600-48556600	Enhancers	Psoas Muscle	Psoas
7	chr12:48554600-48557000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:48554800-48558200	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:48555000-48556800	Weak transcription	Brain Anterior Caudate	brain
10	chr12:48555000-48558200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:48555400-48556000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:48555600-48556200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr12:48555600-48557200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:48555800-48557000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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