Variant report

Variant	rs12322876
Chromosome Location	chr12:49637802-49637803
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49594725..49597535-chr12:49636172..49638217,2	K562	blood:
2	chr12:49633760..49640540-chr12:49656677..49660210,10	MCF-7	breast:
3	chr12:49632892..49634537-chr12:49636163..49637957,2	K562	blood:
4	chr12:49637551..49640407-chr12:49640802..49643677,3	K562	blood:
5	chr12:49637570..49639099-chr12:49647103..49649112,2	K562	blood:
6	chr12:49635417..49638399-chr12:49640493..49643287,2	K562	blood:

Variant related genes	Relation type
ENSG00000167553	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]
rs10047512	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10047588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1109811	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168925	1.00[AMR][1000 genomes]
rs11168927	1.00[AMR][1000 genomes]
rs11168928	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11168938	1.00[AMR][1000 genomes]
rs11168939	1.00[AMR][1000 genomes]
rs11168940	1.00[AMR][1000 genomes]
rs11168942	1.00[AMR][1000 genomes]
rs12296231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12296536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297433	1.00[AMR][1000 genomes]
rs12300386	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300998	1.00[AMR][1000 genomes]
rs12303188	0.89[AFR][1000 genomes]
rs12304259	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12304483	1.00[AMR][1000 genomes]
rs12304746	1.00[AMR][1000 genomes]
rs12308782	0.92[AFR][1000 genomes]
rs12309028	1.00[AMR][1000 genomes]
rs12314967	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12318666	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28758893	0.88[AFR][1000 genomes];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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49629200-49653400	Weak transcription	Fetal Kidney	kidney
2	chr12:49629400-49651000	Weak transcription	Fetal Brain Female	brain
3	chr12:49629400-49657800	Weak transcription	Fetal Stomach	stomach
4	chr12:49630600-49646800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:49634400-49638000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:49634600-49638000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:49634800-49638200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:49635200-49638000	Weak transcription	K562	blood
9	chr12:49637200-49639800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:49637200-49639800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:49637200-49639800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:49637200-49640200	Enhancers	HSMM	muscle
13	chr12:49637200-49640400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:49637400-49638000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:49637400-49638000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr12:49637400-49638000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:49637400-49638000	Enhancers	NH-A	brain
18	chr12:49637400-49638000	Enhancers	Osteobl	bone
19	chr12:49637400-49639800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr12:49637600-49638000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr12:49637600-49638200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:49637600-49639600	Enhancers	NHLF	lung
23	chr12:49637600-49639800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:49637600-49639800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:49637600-49639800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr12:49637600-49639800	Enhancers	NHDF-Ad	bronchial
27	chr12:49637800-49638400	Weak transcription	HSMMtube	muscle
28	chr12:49637800-49640200	Enhancers	Primary neutrophils fromperipheralblood	blood

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