Variant report

Variant	rs34490215
Chromosome Location	chr5:89957437-89957438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:89954656..89958322-chr5:89963130..89966390,3	K562	blood:
2	chr5:89765764..89769852-chr5:89955166..89959028,3	K562	blood:
3	chr5:89702478..89704273-chr5:89957173..89959888,2	K562	blood:
4	chr5:89951486..89954210-chr5:89956379..89958966,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153140	Chromatin interaction
ENSG00000113356	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10056775	0.85[EUR][1000 genomes]
rs10514330	0.86[EUR][1000 genomes]
rs11738461	0.86[EUR][1000 genomes]
rs11738532	0.82[EUR][1000 genomes]
rs11739825	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11739958	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11745908	0.86[EUR][1000 genomes]
rs11748911	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11749693	0.89[EUR][1000 genomes]
rs13157270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13159048	0.87[EUR][1000 genomes]
rs13164404	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13171056	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13171303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13174505	0.92[EUR][1000 genomes]
rs13182944	0.92[EUR][1000 genomes]
rs13183331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13186124	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13190272	0.80[EUR][1000 genomes]
rs17541517	0.86[EUR][1000 genomes]
rs17541704	0.86[EUR][1000 genomes]
rs17541912	0.86[EUR][1000 genomes]
rs17542086	0.86[EUR][1000 genomes]
rs17542921	0.92[EUR][1000 genomes]
rs17543150	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17552645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17614588	0.89[EUR][1000 genomes]
rs17621038	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17621160	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17621985	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17622555	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28399862	0.82[EUR][1000 genomes]
rs34301936	0.86[EUR][1000 genomes]
rs34719862	0.82[EUR][1000 genomes]
rs34774423	0.93[EUR][1000 genomes]
rs35312877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35667071	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35680172	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36045161	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56816222	0.86[EUR][1000 genomes]
rs66683260	0.89[EUR][1000 genomes]
rs67956713	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6866075	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71637308	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv1029970	chr5:89940489-89986831	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv1032225	chr5:89940489-89999954	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv1025391	chr5:89943364-89995164	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	nsv537805	chr5:89943364-89995164	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	nsv882367	chr5:89956991-90209824	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89936800-89994200	Weak transcription	Brain Germinal Matrix	brain
2	chr5:89941800-89957600	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:89949600-89964000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:89950200-89981600	Weak transcription	Fetal Brain Female	brain
5	chr5:89950400-90033400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:89950800-89964000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:89950800-89973800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:89954800-89972600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:89955400-89964000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:89955800-89964800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:89956200-89957600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:89956800-89957800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:89957000-89957800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:89957200-89957600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr5:89957400-89957800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr5:89957400-89958000	Transcr. at gene 5' and 3'	K562	blood

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