Variant report

Variant	rs7730198
Chromosome Location	chr5:89893884-89893885
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:89768356..89770490-chr5:89893117..89895355,2	MCF-7	breast:
2	chr5:89893486..89895205-chr5:89895612..89897548,2	K562	blood:

Variant related genes	Relation type
ENSG00000113356	Chromatin interaction
ENSG00000176055	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10057209	1.00[MEX][hapmap]
rs10070071	1.00[MEX][hapmap]
rs10514329	1.00[MEX][hapmap]
rs11948077	1.00[EUR][1000 genomes]
rs11953174	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11954050	1.00[EUR][1000 genomes]
rs11954191	1.00[EUR][1000 genomes]
rs11954754	0.91[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11955985	1.00[EUR][1000 genomes]
rs11956324	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11957754	1.00[EUR][1000 genomes]
rs11959499	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11960459	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1394638	1.00[MEX][hapmap]
rs1394639	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs16869036	1.00[EUR][1000 genomes]
rs16869039	1.00[EUR][1000 genomes]
rs16869046	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16869069	1.00[EUR][1000 genomes]
rs16869072	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16869075	1.00[EUR][1000 genomes]
rs16869076	1.00[EUR][1000 genomes]
rs16869091	1.00[EUR][1000 genomes]
rs2090594	1.00[EUR][1000 genomes]
rs41311331	1.00[EUR][1000 genomes]
rs57985920	1.00[EUR][1000 genomes]
rs62000408	1.00[EUR][1000 genomes]
rs6452897	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6452909	1.00[EUR][1000 genomes]
rs6861393	1.00[EUR][1000 genomes]
rs6868367	1.00[EUR][1000 genomes]
rs6868595	1.00[EUR][1000 genomes]
rs6879160	0.91[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6880756	1.00[EUR][1000 genomes]
rs6881886	1.00[MEX][hapmap]
rs6886689	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6891482	1.00[EUR][1000 genomes]
rs73179739	1.00[EUR][1000 genomes]
rs7706469	1.00[EUR][1000 genomes]
rs7706731	1.00[EUR][1000 genomes]
rs7716706	0.90[AMR][1000 genomes]
rs7718860	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7720923	1.00[EUR][1000 genomes]
rs7732837	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7733280	1.00[EUR][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	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
7	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
8	nsv531965	chr5:89886550-90145002	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89888600-89897400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:89892800-89909000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:89893000-89894200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:89893000-89907800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:89893200-89902000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:89893400-89894600	Enhancers	Brain Cingulate Gyrus	brain
7	chr5:89893800-89894000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr5:89893800-89894400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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