Variant report

Variant	rs12720603
Chromosome Location	chr1:186909042-186909043
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186907740..186910387-chr1:186916449..186918122,3	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12720490	1.00[AMR][1000 genomes]
rs16826185	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16826273	1.00[AMR][1000 genomes]
rs16826311	1.00[AMR][1000 genomes]
rs2207207	1.00[AMR][1000 genomes]
rs2207208	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186881800-186933600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:186881800-186951200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:186890000-186924400	Weak transcription	Fetal Stomach	stomach
4	chr1:186890800-186928400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr1:186892800-186924000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr1:186895400-186937000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:186897200-186909200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:186897600-186917800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:186897600-186920800	Weak transcription	Fetal Intestine Small	intestine
10	chr1:186900000-186935800	Weak transcription	NHDF-Ad	bronchial
11	chr1:186900800-186910400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:186902600-186911000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:186904000-186925200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:186906600-186910600	Strong transcription	Primary hematopoietic stem cells	blood
15	chr1:186906600-186920800	Weak transcription	Fetal Intestine Large	intestine
16	chr1:186907200-186911400	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr1:186907400-186909800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:186907600-186911000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:186908000-186910400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:186908000-186933800	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:186908600-186909800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr1:186908600-186910000	Strong transcription	Adipose Nuclei	Adipose
23	chr1:186909000-186909800	Strong transcription	Hela-S3	cervix
24	chr1:186909000-186910400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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