Variant report

Variant	rs12045551
Chromosome Location	chr1:169887673-169887674
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169885836..169887922-chr1:169893783..169895856,2	MCF-7	breast:
2	chr1:169884029..169885791-chr1:169886642..169888521,2	MCF-7	breast:
3	chr1:169881052..169883977-chr1:169885843..169888269,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12125595	0.89[AFR][1000 genomes]
rs12125679	0.89[AFR][1000 genomes]
rs12129052	0.93[AFR][1000 genomes]
rs12133849	0.87[AFR][1000 genomes]
rs16828222	0.89[AFR][1000 genomes]
rs16862753	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16862773	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61620667	0.90[AFR][1000 genomes]
rs6672131	0.94[AFR][1000 genomes]
rs6691861	0.94[AFR][1000 genomes]
rs6692172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7526925	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][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	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	esv1845220	chr1:169782006-169933886	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169872800-169887800	Weak transcription	Primary T cells from cord blood	blood
2	chr1:169875800-169889800	Weak transcription	Fetal Brain Female	brain
3	chr1:169876200-169903600	Weak transcription	Aorta	Aorta
4	chr1:169877600-169889800	Weak transcription	Lung	lung
5	chr1:169878400-169892200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:169878400-169895200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:169878400-169946200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:169878600-169895000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:169880200-169892800	Weak transcription	Fetal Heart	heart
10	chr1:169881000-169888000	Weak transcription	Fetal Brain Male	brain
11	chr1:169881400-169901000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:169882200-169892000	Weak transcription	Brain Germinal Matrix	brain
13	chr1:169883000-169890600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:169884200-169913000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:169884400-169888200	Weak transcription	Adipose Nuclei	Adipose
16	chr1:169884400-169889000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:169884400-169891000	Weak transcription	Esophagus	oesophagus
18	chr1:169884600-169887800	Weak transcription	Small Intestine	intestine
19	chr1:169884600-169888400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:169884600-169888600	Weak transcription	NH-A	brain
21	chr1:169884600-169892800	Weak transcription	Pancreas	Pancrea
22	chr1:169884600-169895200	Weak transcription	Fetal Intestine Small	intestine
23	chr1:169884600-169900600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:169884600-169900600	Weak transcription	NHDF-Ad	bronchial
25	chr1:169885200-169888200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:169885200-169888200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:169885200-169900800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:169885400-169894000	Weak transcription	Right Ventricle	heart
29	chr1:169885400-169913200	Weak transcription	Ovary	ovary
30	chr1:169885600-169892200	Weak transcription	Brain Substantia Nigra	brain
31	chr1:169885600-169903200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr1:169885800-169896600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:169885800-169898000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr1:169886000-169894000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:169886200-169888200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:169886400-169894600	Weak transcription	Primary B cells from cord blood	blood
37	chr1:169886400-169895200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:169886400-169913000	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr1:169886600-169889400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr1:169886600-169915600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:169886800-169888800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:169886800-169888800	Strong transcription	Fetal Stomach	stomach
43	chr1:169886800-169889400	Weak transcription	Placenta	Placenta
44	chr1:169886800-169891000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:169887000-169888400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:169887000-169888800	Weak transcription	Fetal Lung	lung
47	chr1:169887000-169911400	Weak transcription	Left Ventricle	heart
48	chr1:169887200-169888000	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:169887200-169890000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr1:169887400-169887800	Enhancers	GM12878-XiMat	blood

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