Variant report

Variant	rs8663
Chromosome Location	chr4:20621690-20621691
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11729598	0.89[EUR][1000 genomes]
rs11733425	0.95[ASN][1000 genomes]
rs61790713	1.00[ASN][1000 genomes]
rs61790714	0.94[EUR][1000 genomes]
rs61790715	0.94[EUR][1000 genomes]
rs9070	1.00[CEU][hapmap];0.95[EUR][1000 genomes]

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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8663	LAP3	cis	parietal	SCAN
rs8663	PACRGL	cis	cerebellum	SCAN
rs8663	PACRGL	cis	parietal	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20597800-20624600	Weak transcription	Brain Hippocampus Middle	brain
2	chr4:20617000-20623200	Genic enhancers	Fetal Lung	lung
3	chr4:20618000-20622800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:20618000-20622800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:20618000-20626400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:20618200-20623400	Strong transcription	NHDF-Ad	bronchial
7	chr4:20618200-20625800	Weak transcription	NHEK	skin
8	chr4:20618800-20627800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:20619000-20622000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:20619200-20622200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:20619400-20622000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:20619400-20622000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr4:20619600-20622000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:20619800-20622400	Weak transcription	Fetal Stomach	stomach
15	chr4:20620000-20622200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:20620000-20622800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:20620000-20623000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:20620000-20623800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:20620000-20625000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr4:20620000-20625400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr4:20620000-20625600	Weak transcription	Osteobl	bone
22	chr4:20620200-20621800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr4:20620200-20623000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr4:20620200-20623000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr4:20620200-20623000	Weak transcription	NHLF	lung
26	chr4:20620200-20625800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr4:20620400-20622000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr4:20620400-20622000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr4:20620400-20622400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:20620400-20623000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:20620400-20623000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr4:20620400-20627000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr4:20620600-20622000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:20620600-20622600	Weak transcription	Fetal Brain Male	brain
35	chr4:20620600-20622800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:20620600-20622800	Weak transcription	Liver	Liver
37	chr4:20620600-20623000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr4:20620600-20631200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:20620800-20621800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr4:20620800-20624200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:20621000-20622600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:20621000-20623000	Weak transcription	Fetal Intestine Small	intestine
43	chr4:20621000-20623400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:20621000-20623400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr4:20621000-20624400	Weak transcription	Aorta	Aorta
46	chr4:20621000-20625600	Weak transcription	Adipose Nuclei	Adipose
47	chr4:20621000-20626200	Weak transcription	Ovary	ovary
48	chr4:20621200-20623000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr4:20621200-20626400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:20621200-20627000	Weak transcription	Fetal Kidney	kidney

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