Variant report

Variant	rs73088812
Chromosome Location	chr12:39815790-39815791
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:39815775..39818623-chr12:39834712..39837857,3	MCF-7	breast:
2	chr12:39815681..39818065-chr12:39831801..39835369,3	K562	blood:
3	chr12:39812598..39816422-chr12:39836371..39838590,3	MCF-7	breast:
4	chr12:39814931..39819046-chr12:39820377..39824549,5	K562	blood:

Variant related genes	Relation type
ENSG00000139116	Chromatin interaction
ENSG00000252974	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1567738	1.00[AMR][1000 genomes]
rs73086879	1.00[AMR][1000 genomes]
rs73086887	1.00[AMR][1000 genomes]
rs73086888	1.00[AMR][1000 genomes]
rs73086895	1.00[AMR][1000 genomes]
rs73086896	1.00[AMR][1000 genomes]
rs73088803	1.00[AMR][1000 genomes]
rs73088804	1.00[AMR][1000 genomes]
rs73088806	1.00[AMR][1000 genomes]
rs73088808	1.00[AMR][1000 genomes]
rs73088811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094416	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094426	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094430	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094441	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094443	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094451	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094465	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094466	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094469	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094480	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094482	0.95[AFR][1000 genomes];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:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39785000-39829200	Weak transcription	K562	blood
2	chr12:39790000-39816200	Weak transcription	Right Ventricle	heart
3	chr12:39794200-39824800	Weak transcription	Right Atrium	heart
4	chr12:39795400-39816600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:39801000-39815800	Weak transcription	Psoas Muscle	Psoas
6	chr12:39802400-39816000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:39806600-39834200	Weak transcription	Hela-S3	cervix
8	chr12:39808600-39821600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:39808600-39830800	Weak transcription	Fetal Brain Female	brain
10	chr12:39810000-39821000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:39810200-39816000	Weak transcription	Fetal Heart	heart
12	chr12:39812600-39820200	Weak transcription	HepG2	liver
13	chr12:39812800-39820200	Weak transcription	HMEC	breast
14	chr12:39813600-39833400	Weak transcription	Brain Germinal Matrix	brain
15	chr12:39813800-39820000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:39814200-39821200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:39814200-39821400	Weak transcription	Placenta	Placenta
18	chr12:39814200-39825800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:39814400-39833800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:39814800-39820800	Weak transcription	A549	lung
21	chr12:39815000-39818200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:39815400-39815800	Weak transcription	Left Ventricle	heart
23	chr12:39815400-39817800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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