Variant report

Variant	rs7716706
Chromosome Location	chr5:89870364-89870365
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:89864609..89867407-chr5:89868607..89870565,2	K562	blood:
2	chr5:89853120..89856686-chr5:89866330..89870459,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164199	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10057209	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10062944	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10070071	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10074390	0.83[AMR][1000 genomes]
rs10514329	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10942598	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11953762	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11954754	0.90[AMR][1000 genomes]
rs11959499	0.90[AMR][1000 genomes]
rs11960201	0.83[AMR][1000 genomes]
rs11960459	0.90[AMR][1000 genomes]
rs1394638	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1394639	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61748292	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6452895	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6452896	0.81[AFR][1000 genomes]
rs6452897	0.90[AMR][1000 genomes]
rs6862493	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6881886	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6888145	0.81[AFR][1000 genomes]
rs6888809	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6889466	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6890465	0.83[AMR][1000 genomes]
rs7730198	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021142	chr5:89102893-89897826	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv537804	chr5:89102893-89897826	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv432750	chr5:89410113-90137144	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv432751	chr5:89457044-90090444	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv882365	chr5:89770768-89882618	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv882366	chr5:89826726-89894564	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv933668	chr5:89854253-89999672	Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89855200-89871000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:89859400-89884200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:89867400-89872600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:89867400-89889200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:89867800-89871400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:89868800-89871200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:89868800-89871600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:89868800-89884400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:89869000-89871400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:89869200-89871200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:89869200-89881200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:89869600-89871600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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