Variant report

Variant	rs12720530
Chromosome Location	chr1:186862932-186862933
allele	A/T
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]
rs6661772	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6688358	0.83[EUR][1000 genomes]
rs66896520	0.83[EUR][1000 genomes]
rs6698103	0.83[EUR][1000 genomes]
rs67896462	0.83[EUR][1000 genomes]
rs72709847	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72709853	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72709867	0.86[AMR][1000 genomes];0.85[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	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186839200-186884800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:186850800-186863400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr1:186850800-186865400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:186852800-186865600	Weak transcription	NHDF-Ad	bronchial
5	chr1:186854000-186869400	Weak transcription	Pancreas	Pancrea
6	chr1:186854000-186897200	Weak transcription	Lung	lung
7	chr1:186854400-186880000	Weak transcription	Fetal Intestine Small	intestine
8	chr1:186854800-186868000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:186855600-186864000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:186856400-186864000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:186857200-186864400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:186857200-186864800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:186857200-186865400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:186857600-186863000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:186857600-186865600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:186857800-186864800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:186861000-186864200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:186861600-186863400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:186861600-186873000	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:186862200-186872400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr1:186862400-186864600	Strong transcription	Hela-S3	cervix
22	chr1:186862400-186865400	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:186862600-186864600	Weak transcription	NHEK	skin
24	chr1:186862600-186865400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:186862600-186865400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:186862600-186865400	Weak transcription	Osteobl	bone
27	chr1:186862800-186864600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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