Variant report

Variant	rs73056040
Chromosome Location	chr12:10338868-10338869
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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]
rs73056073	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10329600-10339000	Weak transcription	Fetal Intestine Large	intestine
2	chr12:10334600-10340200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:10334800-10339000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr12:10336000-10342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:10336000-10343200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:10337200-10341800	Weak transcription	Placenta	Placenta
7	chr12:10337200-10343200	Weak transcription	Fetal Lung	lung
8	chr12:10337200-10350400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:10337400-10342200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:10337400-10344200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:10337600-10339000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:10337600-10339200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr12:10337600-10342200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:10337800-10339000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:10338000-10339000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:10338000-10339200	Enhancers	Primary B cells from cord blood	blood
17	chr12:10338200-10342200	Weak transcription	NHLF	lung
18	chr12:10338400-10339200	Enhancers	Fetal Stomach	stomach
19	chr12:10338600-10339000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:10338600-10339000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:10338600-10339200	Enhancers	GM12878-XiMat	blood
22	chr12:10338600-10339400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr12:10338800-10339200	Enhancers	Duodenum Smooth Muscle	Duodenum

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