Variant report

Variant	rs3112773
Chromosome Location	chr5:89911824-89911825
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:89903799..89906153-chr5:89911475..89913535,2	K562	blood:
2	chr5:89903854..89914063-chr5:89934543..89943749,18	K562	blood:
3	chr5:89705604..89707219-chr5:89911141..89913629,2	K562	blood:
4	chr5:89908130..89913352-chr5:89914891..89917115,4	K562	blood:
5	chr5:89904971..89912478-chr5:89936195..89941599,10	K562	blood:
6	chr5:89908014..89912492-chr5:89923558..89929663,6	K562	blood:
7	chr5:89911565..89913352-chr5:89915615..89918600,2	K562	blood:

Variant related genes	Relation type
ENSG00000164199	Chromatin interaction
ENSG00000255647	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10043564	0.96[EUR][1000 genomes]
rs12186867	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12653924	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1316970	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1474119	0.83[EUR][1000 genomes]
rs149321	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs154566	0.94[ASN][1000 genomes]
rs1673381	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2366772	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2366775	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs250366	0.94[ASN][1000 genomes]
rs250369	0.94[ASN][1000 genomes]
rs27196	0.97[ASN][1000 genomes]
rs27197	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28480058	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4588621	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5028525	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs567441	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs649449	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656679	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6891287	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6891840	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6892132	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs908818	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9283789	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89902600-89917400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:89909800-89912800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:89909800-89919600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:89909800-89923200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:89909800-89923200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr5:89909800-89926400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:89909800-89928800	Weak transcription	Fetal Brain Female	brain
8	chr5:89910000-89927000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:89910000-89928600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:89910200-89912600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:89910200-89913600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:89910600-89912600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:89910600-89916800	Weak transcription	K562	blood
14	chr5:89911000-89912200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:89911000-89913800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:89911200-89915400	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:89911600-89912000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr5:89911800-89913400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:89911800-89915600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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