Variant report

Variant	rs8142356
Chromosome Location	chr22:28184352-28184353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs45452095	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45484898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45567243	1.00[AMR][1000 genomes]
rs5752638	1.00[YRI][hapmap]

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:46 , 50 per page) page: 1

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	chr22:28179800-28185800	Flanking Active TSS	Brain Germinal Matrix	brain
7	chr22:28180000-28186200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:28180000-28187400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr22:28180200-28191000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr22:28180200-28191200	Weak transcription	Right Atrium	heart
11	chr22:28180400-28186200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr22:28180800-28186400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr22:28181200-28186800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:28181200-28189600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr22:28181400-28187600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr22:28181600-28187000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr22:28182400-28184400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr22:28182400-28185600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr22:28182400-28187400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr22:28182600-28186200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr22:28182600-28186200	Genic enhancers	NH-A	brain
22	chr22:28182600-28187200	Weak transcription	Aorta	Aorta
23	chr22:28182800-28186200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr22:28182800-28186800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr22:28182800-28189800	Weak transcription	Ovary	ovary
26	chr22:28182800-28192800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr22:28183000-28186000	Weak transcription	Fetal Intestine Small	intestine
28	chr22:28183200-28186200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr22:28183200-28186600	Enhancers	Brain Anterior Caudate	brain
30	chr22:28183200-28187000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr22:28183400-28184400	Strong transcription	Placenta Amnion	Placenta Amnion
32	chr22:28183400-28184400	Enhancers	Psoas Muscle	Psoas
33	chr22:28183400-28185400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:28183400-28186200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr22:28183600-28184600	Genic enhancers	Fetal Stomach	stomach
36	chr22:28183600-28186200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr22:28183600-28187600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr22:28183800-28185800	Enhancers	Fetal Brain Male	brain
39	chr22:28183800-28186200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr22:28183800-28186200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr22:28183800-28186800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr22:28184000-28184400	Active TSS	Fetal Brain Female	brain
43	chr22:28184000-28184800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr22:28184000-28186400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr22:28184000-28187200	Weak transcription	Right Ventricle	heart
46	chr22:28184200-28184400	Enhancers	Fetal Muscle Leg	muscle

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