Variant report

Variant	rs1379659
Chromosome Location	chr4:20620683-20620684
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs12641748	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829875	chr4:20502895-20680956	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	89 gene(s)	inside rSNPs	diseases
2	nsv1013077	chr4:20599841-20732558	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1010145	chr4:20601908-21057992	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv537052	chr4:20601908-21057992	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1014941	chr4:20611726-21345226	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv537053	chr4:20611726-21345226	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Echocardiographic traits	17903301	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1379659	PACRGL	cis	parietal	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20589200-20620800	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:20597800-20624600	Weak transcription	Brain Hippocampus Middle	brain
3	chr4:20617000-20623200	Genic enhancers	Fetal Lung	lung
4	chr4:20617200-20621000	Enhancers	Fetal Intestine Small	intestine
5	chr4:20618000-20622800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:20618000-20622800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:20618000-20626400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:20618200-20623400	Strong transcription	NHDF-Ad	bronchial
9	chr4:20618200-20625800	Weak transcription	NHEK	skin
10	chr4:20618400-20621000	Enhancers	Adipose Nuclei	Adipose
11	chr4:20618800-20627800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:20619000-20620800	Enhancers	Fetal Kidney	kidney
13	chr4:20619000-20621000	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr4:20619000-20622000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:20619200-20621000	Enhancers	Ovary	ovary
16	chr4:20619200-20621200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr4:20619200-20621600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:20619200-20622200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:20619400-20622000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr4:20619400-20622000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr4:20619600-20621000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:20619600-20622000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr4:20619800-20620800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:20619800-20621000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:20619800-20622400	Weak transcription	Fetal Stomach	stomach
26	chr4:20620000-20621200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:20620000-20622200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:20620000-20622800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr4:20620000-20623000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:20620000-20623800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:20620000-20625000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr4:20620000-20625400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr4:20620000-20625600	Weak transcription	Osteobl	bone
34	chr4:20620200-20621000	Strong transcription	Aorta	Aorta
35	chr4:20620200-20621800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr4:20620200-20623000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr4:20620200-20623000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr4:20620200-20623000	Weak transcription	NHLF	lung
39	chr4:20620200-20625800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr4:20620400-20621200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:20620400-20621200	Enhancers	Gastric	stomach
42	chr4:20620400-20622000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr4:20620400-20622000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr4:20620400-20622400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:20620400-20623000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:20620400-20623000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr4:20620400-20627000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr4:20620600-20620800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr4:20620600-20621000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:20620600-20621600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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