Variant report

Variant	rs73761036
Chromosome Location	chr5:59190466-59190467
allele	A/G
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	REST	chr5:59189222-59190519	SK-N-SH	brain:	n/a	chr5:59189824-59189842 chr5:59189911-59189920 chr5:59189560-59189573 chr5:59189914-59189924
2	GATA2	chr5:59189566-59190525	SH-SY5Y	brain:	n/a	chr5:59190163-59190173 chr5:59190158-59190174 chr5:59190163-59190170 chr5:59190156-59190177 chr5:59190161-59190171 chr5:59190161-59190170
3	POLR2A	chr5:59187392-59190596	H1-neurons	neurons:	n/a	n/a
4	REST	chr5:59189268-59190543	PFSK-1	brain:	n/a	chr5:59189824-59189842 chr5:59189911-59189920 chr5:59189560-59189573 chr5:59189914-59189924
5	REST	chr5:59189359-59190541	H1-hESC	embryonic stem cell:	n/a	chr5:59189824-59189842 chr5:59189911-59189920 chr5:59189560-59189573 chr5:59189914-59189924
6	REST	chr5:59187146-59190728	H1-neurons	neurons:	n/a	chr5:59189824-59189842 chr5:59189911-59189920 chr5:59187952-59187960 chr5:59187764-59187782 chr5:59187954-59187967 chr5:59188303-59188310 chr5:59187954-59187963 chr5:59189560-59189573 chr5:59189914-59189924
7	REST	chr5:59189221-59190584	PFSK-1	brain:	n/a	chr5:59189824-59189842 chr5:59189911-59189920 chr5:59189560-59189573 chr5:59189914-59189924

Variant related genes	Relation type
PDE4D	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs55708737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55860362	1.00[AMR][1000 genomes]
rs56012406	1.00[AMR][1000 genomes]
rs56075849	1.00[AMR][1000 genomes]
rs56378519	1.00[AMR][1000 genomes]
rs57438370	1.00[AMR][1000 genomes]
rs58287048	1.00[AMR][1000 genomes]
rs58383051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59281772	1.00[AMR][1000 genomes]
rs60359678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60661960	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60843912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60858267	1.00[AMR][1000 genomes]
rs61301609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61332617	1.00[AMR][1000 genomes]
rs61610216	1.00[AMR][1000 genomes]
rs73758840	1.00[AMR][1000 genomes]
rs73758841	1.00[AMR][1000 genomes]
rs73758842	1.00[AMR][1000 genomes]
rs73758854	1.00[AMR][1000 genomes]
rs73758861	1.00[AMR][1000 genomes]
rs73758863	1.00[AMR][1000 genomes]
rs73758866	1.00[AMR][1000 genomes]
rs73758869	1.00[AMR][1000 genomes]
rs73758874	1.00[AMR][1000 genomes]
rs73758875	1.00[AMR][1000 genomes]
rs73758878	1.00[AMR][1000 genomes]
rs73758879	1.00[AMR][1000 genomes]
rs73758880	1.00[AMR][1000 genomes]
rs73758881	1.00[AMR][1000 genomes]
rs73758884	1.00[AMR][1000 genomes]
rs73758885	1.00[AMR][1000 genomes]
rs73758888	1.00[AMR][1000 genomes]
rs73758889	1.00[AMR][1000 genomes]
rs73758898	1.00[AMR][1000 genomes]
rs73758901	1.00[AMR][1000 genomes]
rs73761011	1.00[AMR][1000 genomes]
rs73761037	1.00[AMR][1000 genomes]
rs73761040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73761043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73761046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73761047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73761049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73761051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73761053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73761054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73761057	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018015	chr5:58889470-59532667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv537766	chr5:58889470-59532667	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv534614	chr5:58962510-59388525	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59186600-59190600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr5:59187800-59190600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
3	chr5:59187800-59190600	Active TSS	Brain Anterior Caudate	brain
4	chr5:59188800-59190600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr5:59189000-59190600	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr5:59189000-59190600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:59189000-59190800	Active TSS	Fetal Brain Female	brain
8	chr5:59189600-59190800	Active TSS	Fetal Brain Male	brain
9	chr5:59190000-59190600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
10	chr5:59190200-59190600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
11	chr5:59190400-59190600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:59190400-59190600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:59190400-59190600	Enhancers	Brain Angular Gyrus	brain
14	chr5:59190400-59190600	Active TSS	Brain Cingulate Gyrus	brain

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