Variant report

Variant	rs7290827
Chromosome Location	chr22:28159311-28159312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2065061	1.00[MEX][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7290827	CPNE1	trans	lymphoblastoid	seeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28148000-28171200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr22:28149200-28162200	Weak transcription	Lung	lung
3	chr22:28150200-28161600	Weak transcription	Hela-S3	cervix
4	chr22:28150600-28161400	Weak transcription	Ovary	ovary
5	chr22:28150600-28161800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr22:28150800-28171000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr22:28151000-28160400	Weak transcription	Psoas Muscle	Psoas
8	chr22:28151200-28170000	Weak transcription	NHEK	skin
9	chr22:28151400-28160000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr22:28152000-28168200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr22:28152200-28163200	Weak transcription	Right Atrium	heart
12	chr22:28152600-28164000	Weak transcription	Aorta	Aorta
13	chr22:28153200-28164800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr22:28154000-28164200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:28154200-28164000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr22:28154200-28165200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr22:28154600-28160400	Weak transcription	NH-A	brain
18	chr22:28155200-28163000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr22:28156800-28162600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr22:28156800-28182000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr22:28157000-28160000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr22:28157200-28160200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr22:28157200-28160600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr22:28157600-28162200	Weak transcription	Fetal Intestine Large	intestine
25	chr22:28157800-28160800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr22:28157800-28168200	Weak transcription	Brain Hippocampus Middle	brain
27	chr22:28158000-28159600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr22:28158000-28159600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr22:28158000-28160200	Weak transcription	Fetal Muscle Leg	muscle
30	chr22:28158000-28170000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr22:28158200-28159400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr22:28158200-28168600	Weak transcription	Brain Anterior Caudate	brain
33	chr22:28158200-28174400	Weak transcription	Right Ventricle	heart
34	chr22:28158400-28159600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr22:28158400-28164000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr22:28158400-28165200	Strong transcription	Fetal Stomach	stomach
37	chr22:28158400-28169400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:28158400-28170400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr22:28158600-28159800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr22:28158600-28168800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr22:28158800-28159600	Strong transcription	Brain Germinal Matrix	brain
42	chr22:28158800-28160800	Strong transcription	Fetal Intestine Small	intestine
43	chr22:28159200-28159400	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr22:28159200-28159800	Strong transcription	Fetal Brain Female	brain
45	chr22:28159200-28160000	Enhancers	Fetal Brain Male	brain
46	chr22:28159200-28162200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr22:28159200-28162800	Strong transcription	Placenta Amnion	Placenta Amnion

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