Variant report

Variant	rs1567738
Chromosome Location	chr12:39794903-39794904
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:39790931..39794937-chr12:39833585..39836831,4	K562	blood:
2	chr12:39793686..39797447-chr12:39835348..39837306,4	MCF-7	breast:
3	chr12:39792518..39795193-chr12:39798527..39801393,2	K562	blood:
4	chr12:39793372..39796238-chr12:39806830..39809770,2	K562	blood:
5	chr12:39788415..39791571-chr12:39793998..39797026,3	K562	blood:

Variant related genes	Relation type
ENSG00000252974	Chromatin interaction
ENSG00000139116	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12099945	1.00[CEU][hapmap]
rs73086879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73086886	1.00[AFR][1000 genomes]
rs73086887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73086888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73086895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73086896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088808	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088811	1.00[AMR][1000 genomes]
rs73088812	1.00[AMR][1000 genomes]
rs73094416	1.00[AMR][1000 genomes]
rs73094426	1.00[AMR][1000 genomes]
rs73094430	1.00[AMR][1000 genomes]
rs73094441	1.00[AMR][1000 genomes]
rs73094443	1.00[AMR][1000 genomes]
rs73094451	1.00[AMR][1000 genomes]
rs73094465	1.00[AMR][1000 genomes]
rs73094466	1.00[AMR][1000 genomes]
rs73094469	1.00[AMR][1000 genomes]
rs73094480	1.00[AMR][1000 genomes]
rs73094482	1.00[AMR][1000 genomes]
rs73094497	1.00[AMR][1000 genomes]
rs73094498	1.00[AMR][1000 genomes]
rs73094499	1.00[AMR][1000 genomes]
rs73094502	1.00[AMR][1000 genomes]
rs73096503	1.00[AMR][1000 genomes]
rs73096504	1.00[AMR][1000 genomes]
rs73096507	1.00[AMR][1000 genomes]
rs73096509	1.00[AMR][1000 genomes]
rs73096513	1.00[AMR][1000 genomes]
rs73096521	1.00[AMR][1000 genomes]
rs73096524	1.00[AMR][1000 genomes]
rs73096528	1.00[AMR][1000 genomes]
rs73096539	1.00[AMR][1000 genomes]
rs73096542	1.00[AMR][1000 genomes]
rs73096551	1.00[AMR][1000 genomes]
rs73096571	1.00[AMR][1000 genomes]
rs73096578	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832376	chr12:39633080-39808277	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39761800-39806000	Weak transcription	Hela-S3	cervix
2	chr12:39781400-39800200	Weak transcription	Brain Angular Gyrus	brain
3	chr12:39782200-39796800	Weak transcription	A549	lung
4	chr12:39785000-39796800	Weak transcription	HMEC	breast
5	chr12:39785000-39829200	Weak transcription	K562	blood
6	chr12:39785200-39796400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:39785400-39796600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:39786400-39796800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:39789000-39799400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:39789200-39800000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:39789400-39795400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:39790000-39816200	Weak transcription	Right Ventricle	heart
13	chr12:39791800-39796200	Weak transcription	Left Ventricle	heart
14	chr12:39791800-39797800	Enhancers	Fetal Heart	heart
15	chr12:39791800-39799600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:39792000-39796800	Weak transcription	GM12878-XiMat	blood
17	chr12:39792200-39795000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:39792600-39798000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:39793600-39799800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:39794200-39795400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:39794200-39795400	Weak transcription	NHEK	skin
22	chr12:39794200-39824800	Weak transcription	Right Atrium	heart

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