Variant report

Variant	rs45457893
Chromosome Location	chr22:28168805-28168806
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	chr22:28163969..28165526-chr22:28166620..28168974,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs73880588	1.00[AMR][1000 genomes]
rs9620750	1.00[AMR][1000 genomes]
rs9625369	1.00[AMR][1000 genomes]
rs9625373	1.00[AMR][1000 genomes]
rs9625376	1.00[AMR][1000 genomes]
rs9625381	1.00[AMR][1000 genomes]
rs9625385	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1059972	chr22:28089263-28227579	Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28148000-28171200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr22:28150800-28171000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr22:28151200-28170000	Weak transcription	NHEK	skin
4	chr22:28156800-28182000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr22:28158000-28170000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr22:28158200-28174400	Weak transcription	Right Ventricle	heart
7	chr22:28158400-28169400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:28158400-28170400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr22:28161000-28171400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:28161400-28170200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr22:28162200-28170600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr22:28162200-28171000	Weak transcription	Ovary	ovary
13	chr22:28162400-28176000	Weak transcription	Hela-S3	cervix
14	chr22:28162800-28169200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr22:28162800-28171200	Weak transcription	Lung	lung
16	chr22:28164400-28170200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr22:28164400-28180800	Weak transcription	Aorta	Aorta
18	chr22:28164600-28169400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr22:28164600-28169400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:28164600-28170400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr22:28165400-28170800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr22:28165400-28171200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr22:28165800-28170000	Weak transcription	HMEC	breast
24	chr22:28166000-28170000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr22:28166200-28170000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr22:28166200-28171600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr22:28166400-28169200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr22:28166400-28171000	Weak transcription	Colon Smooth Muscle	Colon
29	chr22:28166600-28170200	Weak transcription	NH-A	brain
30	chr22:28166600-28170800	Weak transcription	Psoas Muscle	Psoas
31	chr22:28167600-28170000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr22:28167600-28170400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:28167800-28171000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr22:28168000-28170000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr22:28168200-28169000	Genic enhancers	Brain Germinal Matrix	brain
36	chr22:28168200-28169600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr22:28168200-28169800	Enhancers	Fetal Muscle Leg	muscle
38	chr22:28168200-28170000	Enhancers	Brain Hippocampus Middle	brain
39	chr22:28168200-28171800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr22:28168200-28180600	Enhancers	Fetal Brain Male	brain
41	chr22:28168400-28169000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr22:28168400-28169600	Enhancers	Brain Angular Gyrus	brain
43	chr22:28168400-28169600	Enhancers	Brain Cingulate Gyrus	brain
44	chr22:28168400-28169600	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr22:28168400-28171200	Weak transcription	Adipose Nuclei	Adipose
46	chr22:28168600-28169000	Enhancers	Brain Anterior Caudate	brain
47	chr22:28168600-28169400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr22:28168600-28170200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr22:28168800-28169600	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
50	chr22:28168800-28170000	Weak transcription	Stomach Smooth Muscle	stomach

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