Variant report

Variant	rs10047512
Chromosome Location	chr12:49632983-49632984
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:49631107..49633113-chr12:49653353..49655151,2	MCF-7	breast:
2	chr12:49632892..49634537-chr12:49636163..49637957,2	K562	blood:
3	chr12:49523038..49525426-chr12:49632544..49634215,5	K562	blood:
4	chr12:49481249..49484156-chr12:49632283..49634121,2	K562	blood:
5	chr12:49632513..49636593-chr12:49658328..49660482,3	MCF-7	breast:
6	chr12:49630703..49633435-chr12:49659066..49660626,2	MCF-7	breast:
7	chr12:49626201..49630727-chr12:49631926..49634972,10	K562	blood:
8	chr12:49513866..49528454-chr12:49616957..49635747,92	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167553	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000257346	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000200309	Chromatin interaction
ENSG00000258101	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10047588	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1109811	1.00[AMR][1000 genomes]
rs11168925	1.00[AMR][1000 genomes]
rs11168927	1.00[AMR][1000 genomes]
rs11168928	1.00[AMR][1000 genomes]
rs11168931	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168938	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11168939	1.00[AMR][1000 genomes]
rs11168940	1.00[AMR][1000 genomes]
rs11168942	1.00[AMR][1000 genomes]
rs11168955	1.00[YRI][hapmap]
rs12296231	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12296536	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297433	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12300386	1.00[AMR][1000 genomes]
rs12300998	1.00[AMR][1000 genomes]
rs12303188	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs12304259	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12304483	1.00[AMR][1000 genomes]
rs12304746	1.00[AMR][1000 genomes]
rs12309028	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12314967	1.00[AMR][1000 genomes]
rs12318666	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12322876	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28758893	1.00[AMR][1000 genomes]
rs9804936	1.00[AMR][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	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
5	nsv518041	chr12:49618043-49645240	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49629200-49633600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:49629200-49633800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:49629200-49634000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:49629200-49635000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:49629200-49653400	Weak transcription	Fetal Kidney	kidney
6	chr12:49629400-49634200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:49629400-49634200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:49629400-49637200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:49629400-49651000	Weak transcription	Fetal Brain Female	brain
10	chr12:49629400-49657800	Weak transcription	Fetal Stomach	stomach
11	chr12:49630600-49633600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:49630600-49646800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:49632200-49633000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:49632600-49633000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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