Variant report

Variant	rs73056073
Chromosome Location	chr12:10343293-10343294
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:10305922..10306441-chr12:10343128..10344030,2	K562	blood:
2	chr12:10305940..10306484-chr12:10342703..10343621,2	MCF-7	breast:
3	chr12:10305467..10306793-chr12:10342493..10344173,14	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17808107	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17808113	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17808125	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4763454	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57922269	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73056040	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73057956	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7975181	0.83[AMR][1000 genomes];0.97[EUR][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	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10337200-10350400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:10337400-10344200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:10339400-10347800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:10340200-10343400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr12:10341800-10345200	Enhancers	Placenta	Placenta
6	chr12:10342200-10343600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr12:10342200-10344200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:10342200-10345200	Enhancers	NHLF	lung
9	chr12:10342200-10345400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:10342400-10343400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr12:10342400-10345000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:10342400-10345200	Enhancers	NH-A	brain
13	chr12:10342400-10345400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:10342600-10343800	Enhancers	Brain Hippocampus Middle	brain
15	chr12:10342600-10344800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:10342800-10343600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:10342800-10343800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:10342800-10344000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:10342800-10345000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:10343000-10345200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:10343000-10345200	Enhancers	Hela-S3	cervix
22	chr12:10343200-10343400	Enhancers	Fetal Lung	lung
23	chr12:10343200-10343400	Enhancers	Osteobl	bone
24	chr12:10343200-10343600	Enhancers	Brain Angular Gyrus	brain
25	chr12:10343200-10343600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr12:10343200-10343600	Enhancers	Fetal Heart	heart
27	chr12:10343200-10343600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr12:10343200-10343600	Enhancers	GM12878-XiMat	blood
29	chr12:10343200-10343800	Enhancers	Brain Cingulate Gyrus	brain
30	chr12:10343200-10345200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr12:10343200-10345200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr12:10343200-10345200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:10343200-10345200	Enhancers	HMEC	breast
34	chr12:10343200-10345200	Enhancers	NHEK	skin

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