Variant report

Variant	rs12720689
Chromosome Location	chr1:186948142-186948143
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12720526	1.00[AMR][1000 genomes]
rs12720570	1.00[AMR][1000 genomes]
rs12720571	1.00[AMR][1000 genomes]
rs12720594	1.00[AMR][1000 genomes]
rs12720595	1.00[AMR][1000 genomes]
rs16826260	1.00[AMR][1000 genomes]
rs58303526	1.00[AMR][1000 genomes]
rs60393905	1.00[AMR][1000 genomes]
rs74135206	1.00[AMR][1000 genomes]
rs74137541	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	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
2	nsv548407	chr1:186875459-186951429	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186881800-186951200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:186923400-186958800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:186926800-186951200	Weak transcription	Fetal Intestine Small	intestine
4	chr1:186935000-186950800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:186936000-186949400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:186939200-186950000	Weak transcription	A549	lung
7	chr1:186943600-186948400	Enhancers	Colon Smooth Muscle	Colon
8	chr1:186943600-186948400	Enhancers	Rectal Smooth Muscle	rectum
9	chr1:186943800-186948400	Enhancers	NHDF-Ad	bronchial
10	chr1:186944400-186951600	Weak transcription	Adipose Nuclei	Adipose
11	chr1:186945000-186949200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:186945000-186952200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:186946200-186951200	Weak transcription	Fetal Stomach	stomach
14	chr1:186946400-186948400	Flanking Active TSS	HUVEC	blood vessel
15	chr1:186946800-186951200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:186947000-186958800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:186947200-186948200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:186947200-186948200	Enhancers	GM12878-XiMat	blood
19	chr1:186947400-186948200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr1:186947400-186948400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr1:186947400-186948600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:186947600-186948400	Enhancers	Osteobl	bone
23	chr1:186947600-186948600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:186947800-186948200	Active TSS	Primary B cells from cord blood	blood
25	chr1:186947800-186948400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:186947800-186948600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr1:186947800-186948600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:186947800-186949600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:186948000-186948200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:186948000-186948200	Active TSS	Gastric	stomach
31	chr1:186948000-186948200	Enhancers	Lung	lung
32	chr1:186948000-186948400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:186948000-186948400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr1:186948000-186949000	Strong transcription	Hela-S3	cervix
35	chr1:186948000-186952200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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