Variant report

Variant	rs17330202
Chromosome Location	chr4:119962105-119962106
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:119961660..119966741-chr4:120131496..120138495,10	MCF-7	breast:
2	chr4:119960403..119963318-chr4:120145478..120148032,2	MCF-7	breast:
3	chr4:119961926..119964707-chr4:120220265..120223511,3	MCF-7	breast:
4	chr4:119961771..119963428-chr4:119969203..119971294,2	MCF-7	breast:
5	chr4:119961537..119963870-chr4:120206398..120209055,3	MCF-7	breast:
6	chr4:119957521..119966347-chr4:120131974..120135434,12	MCF-7	breast:
7	chr4:119961730..119963234-chr4:120129552..120131443,2	MCF-7	breast:
8	chr4:119961410..119962210-chr4:120207352..120208217,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145390	Chromatin interaction
ENSG00000164096	Chromatin interaction
ENSG00000178636	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1058450	1.00[LWK][hapmap]
rs17264415	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17330202	MYOZ2	cis	parietal	SCAN
rs17330202	PDE5A	cis	cerebellum	SCAN
rs17330202	ENPP6	trans	parietal	SCAN

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119953600-119963000	Weak transcription	Fetal Intestine Large	intestine
2	chr4:119956200-119967400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:119956200-119973200	Weak transcription	Psoas Muscle	Psoas
4	chr4:119956600-119963000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:119956600-119964000	Enhancers	Rectal Smooth Muscle	rectum
6	chr4:119956800-119965600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:119957200-119964000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:119957800-119962800	Weak transcription	Hela-S3	cervix
9	chr4:119958800-119970400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:119959000-119963200	Enhancers	Colon Smooth Muscle	Colon
11	chr4:119959200-119962600	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr4:119959200-119963200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:119959200-119964200	Enhancers	NHLF	lung
14	chr4:119959400-119962800	Enhancers	HSMMtube	muscle
15	chr4:119959400-119963200	Weak transcription	Stomach Mucosa	stomach
16	chr4:119959400-119963800	Enhancers	Osteobl	bone
17	chr4:119959800-119963400	Enhancers	NHEK	skin
18	chr4:119960000-119963000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:119960000-119964200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr4:119960200-119963000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:119960200-119963000	Weak transcription	Aorta	Aorta
22	chr4:119960200-119964800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr4:119960400-119964200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr4:119960400-119965000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr4:119960400-119965400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:119960600-119963000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr4:119960600-119963800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr4:119960600-119965400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr4:119960800-119962200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr4:119961000-119962200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:119961000-119962200	Enhancers	Brain Cingulate Gyrus	brain
32	chr4:119961000-119962600	Enhancers	Placenta Amnion	Placenta Amnion
33	chr4:119961000-119963200	Enhancers	Brain Substantia Nigra	brain
34	chr4:119961000-119963200	Enhancers	Stomach Smooth Muscle	stomach
35	chr4:119961000-119963600	Enhancers	Brain Hippocampus Middle	brain
36	chr4:119961200-119962200	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr4:119961200-119963000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:119961200-119963400	Enhancers	A549	lung
39	chr4:119961200-119963600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:119961200-119964200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:119961400-119962600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:119961400-119963200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:119961600-119962200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:119961600-119962200	Enhancers	Left Ventricle	heart
45	chr4:119961600-119962200	Enhancers	Ovary	ovary
46	chr4:119961600-119962200	Enhancers	Right Atrium	heart
47	chr4:119961600-119962800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:119961800-119962200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:119961800-119962200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:119961800-119962200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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