Variant report

Variant	rs10747563
Chromosome Location	chr12:49596999-49597000
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49595342..49597078-chr12:49602545..49604870,2	K562	blood:
2	chr12:49580976..49585142-chr12:49593729..49597432,6	MCF-7	breast:
3	chr12:49524354..49526454-chr12:49595558..49597107,2	K562	blood:
4	chr12:49594725..49597535-chr12:49636172..49638217,2	K562	blood:
5	chr12:49522523..49525468-chr12:49594471..49598095,4	K562	blood:
6	chr12:49595504..49598364-chr12:49659060..49661146,3	K562	blood:

Variant related genes	Relation type
ENSG00000123416	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000167552	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1039225	0.83[CEU][hapmap];0.94[CHB][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs10747561	0.94[CHB][hapmap]
rs10747562	0.94[CHB][hapmap]
rs10783302	0.94[CHB][hapmap]
rs10783308	0.94[CHB][hapmap]
rs10875924	0.88[CHB][hapmap]
rs10875928	0.94[CHB][hapmap]
rs10875931	0.94[CHB][hapmap]
rs10875934	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10875935	0.84[CHB][hapmap]
rs11168857	0.94[CHB][hapmap]
rs11168862	0.94[CHB][hapmap]
rs11168884	0.89[CHB][hapmap]
rs11168893	0.89[CHB][hapmap];0.80[JPT][hapmap]
rs11168903	0.81[ASN][1000 genomes]
rs11168910	0.83[CEU][hapmap];0.94[CHB][hapmap];0.80[JPT][hapmap]
rs11168911	0.99[ASN][1000 genomes]
rs11168912	0.94[ASN][1000 genomes]
rs11168917	1.00[ASN][1000 genomes]
rs11168919	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12229524	0.83[CEU][hapmap];0.94[CHB][hapmap]
rs12309994	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874908	0.94[CHB][hapmap]
rs1991427	0.83[CEU][hapmap];0.88[CHB][hapmap]
rs2047101	0.94[CHB][hapmap]
rs2162644	0.94[CHB][hapmap]
rs2279596	0.94[CHB][hapmap]
rs2334930	0.94[CHB][hapmap]
rs2753	0.94[CHB][hapmap]
rs3741621	0.94[CHB][hapmap]
rs56149019	0.99[ASN][1000 genomes]
rs7306084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731350	0.94[CHB][hapmap]
rs7954521	0.89[CHB][hapmap]
rs7954530	0.94[CHB][hapmap]
rs7957998	0.94[CHB][hapmap]
rs7958241	0.88[CHB][hapmap]
rs7959497	0.84[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7969967	0.83[CEU][hapmap];0.94[CHB][hapmap]
rs9325145	0.94[CHB][hapmap]

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	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49592800-49608600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:49593200-49597400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:49595800-49597200	Enhancers	Lung	lung
4	chr12:49596000-49598600	Weak transcription	Fetal Brain Female	brain
5	chr12:49596000-49601400	Weak transcription	Brain Substantia Nigra	brain
6	chr12:49596000-49608600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:49596200-49597200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:49596200-49598400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:49596200-49598400	Weak transcription	Fetal Brain Male	brain
10	chr12:49596800-49597200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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