Variant report

Variant	rs45574432
Chromosome Location	chr22:28187773-28187774
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73166773	1.00[AFR][1000 genomes]
rs73166779	1.00[AFR][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:57 , 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	chr22:28180200-28191000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr22:28180200-28191200	Weak transcription	Right Atrium	heart
8	chr22:28181200-28189600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr22:28182800-28189800	Weak transcription	Ovary	ovary
10	chr22:28182800-28192800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr22:28184400-28190600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr22:28186000-28187800	Enhancers	Psoas Muscle	Psoas
13	chr22:28186200-28187800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr22:28186200-28188000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr22:28186200-28190200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr22:28186200-28191000	Genic enhancers	Fetal Stomach	stomach
17	chr22:28186200-28196000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr22:28186400-28187800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr22:28186400-28190200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr22:28186600-28192800	Weak transcription	Lung	lung
21	chr22:28186800-28187800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
22	chr22:28186800-28188000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr22:28186800-28188000	Bivalent Enhancer	Fetal Intestine Large	intestine
24	chr22:28186800-28188000	Bivalent Enhancer	Fetal Kidney	kidney
25	chr22:28186800-28188000	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr22:28186800-28188200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:28186800-28189000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr22:28186800-28196600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:28187000-28188000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr22:28187000-28188800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr22:28187000-28189000	Bivalent Enhancer	Fetal Intestine Small	intestine
32	chr22:28187000-28189800	Enhancers	Primary hematopoietic stem cells	blood
33	chr22:28187000-28190000	Active TSS	Fetal Brain Female	brain
34	chr22:28187200-28187800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr22:28187200-28187800	Flanking Active TSS	Fetal Brain Male	brain
36	chr22:28187200-28188000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
37	chr22:28187200-28188000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
38	chr22:28187400-28187800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
39	chr22:28187400-28187800	Enhancers	Brain Angular Gyrus	brain
40	chr22:28187400-28187800	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr22:28187400-28187800	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
42	chr22:28187400-28188000	Enhancers	Adipose Nuclei	Adipose
43	chr22:28187400-28189600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr22:28187400-28190600	Enhancers	H9 Cell Line	embryonic stem cell
45	chr22:28187400-28190800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
46	chr22:28187400-28191200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr22:28187600-28187800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
48	chr22:28187600-28187800	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr22:28187600-28188000	Flanking Active TSS	NH-A	brain
50	chr22:28187600-28188600	Weak transcription	Aorta	Aorta

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