Variant report

Variant	rs58457535
Chromosome Location	chr22:28181320-28181321
allele	C/G
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]
rs45497498	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:66 , 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	chr22:28170600-28192600	Weak transcription	HMEC	breast
3	chr22:28171600-28190400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr22:28172000-28183400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr22:28175000-28182000	Weak transcription	Brain Substantia Nigra	brain
6	chr22:28176400-28182400	Weak transcription	Fetal Intestine Small	intestine
7	chr22:28176600-28191000	Weak transcription	NHEK	skin
8	chr22:28176800-28190000	Weak transcription	Hela-S3	cervix
9	chr22:28177600-28188000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr22:28178400-28183600	Weak transcription	Right Ventricle	heart
11	chr22:28178600-28182000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr22:28179600-28182000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr22:28179600-28182800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr22:28179600-28183200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:28179600-28183200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr22:28179800-28181400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr22:28179800-28181600	Enhancers	Fetal Lung	lung
18	chr22:28179800-28182200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr22:28179800-28182200	Enhancers	Fetal Muscle Leg	muscle
20	chr22:28179800-28182800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr22:28179800-28182800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr22:28179800-28183000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr22:28179800-28183000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:28179800-28183000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr22:28179800-28183600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr22:28179800-28183800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr22:28179800-28185800	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr22:28180000-28186200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr22:28180000-28187400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr22:28180200-28182000	Weak transcription	Psoas Muscle	Psoas
31	chr22:28180200-28191000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr22:28180200-28191200	Weak transcription	Right Atrium	heart
33	chr22:28180400-28181400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr22:28180400-28183400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr22:28180400-28186200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr22:28180600-28181400	Flanking Active TSS	Fetal Brain Male	brain
37	chr22:28180600-28182200	Active TSS	Fetal Brain Female	brain
38	chr22:28180600-28182600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr22:28180600-28182800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr22:28180800-28181400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr22:28180800-28181600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr22:28180800-28181600	Active TSS	Aorta	Aorta
43	chr22:28180800-28182400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr22:28180800-28182600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr22:28180800-28182800	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr22:28180800-28186400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr22:28181000-28181400	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr22:28181000-28181400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr22:28181000-28181400	Flanking Active TSS	Fetal Stomach	stomach
50	chr22:28181000-28181400	Active TSS	NHDF-Ad	bronchial

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