Variant report

Variant	rs45497498
Chromosome Location	chr22:28174824-28174825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs58457535	1.00[AMR][1000 genomes]
rs73427703	1.00[AMR][1000 genomes]
rs8136640	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv829144	chr22:28172266-28209317	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28156800-28182000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:28162400-28176000	Weak transcription	Hela-S3	cervix
3	chr22:28164400-28180800	Weak transcription	Aorta	Aorta
4	chr22:28168200-28180600	Enhancers	Fetal Brain Male	brain
5	chr22:28170600-28192600	Weak transcription	HMEC	breast
6	chr22:28171000-28175800	Weak transcription	Spleen	Spleen
7	chr22:28171000-28175800	Weak transcription	NHEK	skin
8	chr22:28171200-28176600	Enhancers	NH-A	brain
9	chr22:28171600-28190400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr22:28172000-28183400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr22:28172400-28175600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr22:28172400-28175600	Enhancers	Primary hematopoietic stem cells	blood
13	chr22:28172400-28175800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr22:28172800-28175400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr22:28173000-28176000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr22:28173200-28175000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr22:28173200-28176000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr22:28173200-28176000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:28173200-28176600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr22:28173200-28179400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr22:28173400-28175800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr22:28173400-28175800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr22:28173800-28175000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr22:28173800-28175000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr22:28173800-28175000	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr22:28173800-28175000	Enhancers	Brain Substantia Nigra	brain
27	chr22:28173800-28176200	Enhancers	Ovary	ovary
28	chr22:28173800-28176800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:28174000-28175000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr22:28174000-28175200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr22:28174000-28176200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr22:28174200-28175000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
33	chr22:28174200-28175200	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr22:28174200-28176000	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr22:28174200-28176400	Enhancers	Esophagus	oesophagus
36	chr22:28174200-28176400	Enhancers	Left Ventricle	heart
37	chr22:28174200-28180800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr22:28174400-28175000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr22:28174400-28175000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr22:28174400-28175200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr22:28174400-28176000	Enhancers	Right Ventricle	heart
42	chr22:28174400-28176400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr22:28174400-28176400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr22:28174400-28176400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr22:28174400-28176400	Genic enhancers	Fetal Stomach	stomach
46	chr22:28174400-28176400	Enhancers	Psoas Muscle	Psoas
47	chr22:28174400-28176600	Enhancers	Fetal Muscle Leg	muscle
48	chr22:28174400-28176800	Enhancers	H1 Cell Line	embryonic stem cell
49	chr22:28174400-28176800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr22:28174400-28176800	Enhancers	Lung	lung

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