Variant report

Variant	rs12315823
Chromosome Location	chr12:49598803-49598804
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	chr12:49582460..49584150-chr12:49598662..49600367,2	K562	blood:
2	chr12:49597519..49599755-chr12:49602192..49604137,2	K562	blood:

Variant related genes	Relation type
ENSG00000167552	Chromatin interaction
ENSG00000167553	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10219709	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs11168858	1.00[MEX][hapmap]
rs11168871	1.00[MEX][hapmap]
rs11168898	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs11168899	1.00[AMR][1000 genomes]
rs11168905	1.00[AMR][1000 genomes]
rs11168913	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168916	1.00[AMR][1000 genomes]
rs11168918	1.00[AMR][1000 genomes]
rs11168923	1.00[MEX][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs12296189	1.00[AMR][1000 genomes]
rs12296265	1.00[AMR][1000 genomes]
rs12297125	0.83[AMR][1000 genomes]
rs12298869	1.00[AMR][1000 genomes]
rs12307514	0.83[AMR][1000 genomes]
rs12318970	1.00[AMR][1000 genomes]
rs12321120	1.00[AMR][1000 genomes]
rs12322965	1.00[AMR][1000 genomes]
rs17123645	1.00[MEX][hapmap]
rs61648563	1.00[AMR][1000 genomes]

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:7 , 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	chr12:49596000-49601400	Weak transcription	Brain Substantia Nigra	brain
3	chr12:49596000-49608600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:49597400-49606600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:49598400-49599000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:49598400-49599200	Enhancers	Fetal Brain Male	brain
7	chr12:49598600-49599000	Enhancers	Cortex derived primary cultured neurospheres	brain

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