Variant report

Variant	rs45462093
Chromosome Location	chr22:28187396-28187397
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28566624	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5752638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5762354	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5762355	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5762356	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5762358	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28170600-28192600	Weak transcription	HMEC	breast
2	chr22:28171600-28190400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:28176600-28191000	Weak transcription	NHEK	skin
4	chr22:28176800-28190000	Weak transcription	Hela-S3	cervix
5	chr22:28177600-28188000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr22:28180000-28187400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:28180200-28191000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr22:28180200-28191200	Weak transcription	Right Atrium	heart
9	chr22:28181200-28189600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr22:28181400-28187600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr22:28182400-28187400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr22:28182800-28189800	Weak transcription	Ovary	ovary
13	chr22:28182800-28192800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr22:28183600-28187600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr22:28184400-28190600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr22:28186000-28187800	Enhancers	Psoas Muscle	Psoas
17	chr22:28186200-28187400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:28186200-28187800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr22:28186200-28188000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr22:28186200-28190200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr22:28186200-28191000	Genic enhancers	Fetal Stomach	stomach
22	chr22:28186200-28196000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr22:28186400-28187600	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr22:28186400-28187600	Enhancers	Left Ventricle	heart
25	chr22:28186400-28187800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr22:28186400-28190200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr22:28186600-28187400	Active TSS	Brain Germinal Matrix	brain
28	chr22:28186600-28187600	Enhancers	Fetal Muscle Trunk	muscle
29	chr22:28186600-28192800	Weak transcription	Lung	lung
30	chr22:28186800-28187400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr22:28186800-28187400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
32	chr22:28186800-28187400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
33	chr22:28186800-28187400	Active TSS	Brain Anterior Caudate	brain
34	chr22:28186800-28187400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr22:28186800-28187600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
36	chr22:28186800-28187600	Bivalent Enhancer	Fetal Heart	heart
37	chr22:28186800-28187600	Bivalent Enhancer	Fetal Lung	lung
38	chr22:28186800-28187800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
39	chr22:28186800-28188000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr22:28186800-28188000	Bivalent Enhancer	Fetal Intestine Large	intestine
41	chr22:28186800-28188000	Bivalent Enhancer	Fetal Kidney	kidney
42	chr22:28186800-28188000	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr22:28186800-28188200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:28186800-28189000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr22:28186800-28196600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr22:28187000-28187400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr22:28187000-28187400	Flanking Active TSS	NH-A	brain
48	chr22:28187000-28187600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr22:28187000-28187600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr22:28187000-28188000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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