Variant report

Variant	rs540368009
Chromosome Location	chr3:138066329-138066330
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr3:138065944-138066613	U2OS	brain:	n/a	n/a
2	GATA3	chr3:138066156-138066343	SH-SY5Y	brain:	n/a	n/a
3	GTF3C2	chr3:138066247-138067030	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:138065940..138068792-chr3:138150528..138153476,2	K562	blood:
2	chr3:138045780..138048564-chr3:138065051..138067433,2	K562	blood:
3	chr3:138042389..138044114-chr3:138065779..138068075,2	K562	blood:

Variant related genes	Relation type
MRAS	TF binding region
ENSG00000158220	Chromatin interaction
ENSG00000181322	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv528349	chr3:138025396-138132393	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1796956	chr3:138051423-138122781	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1848610	chr3:138051423-138133412	Bivalent Enhancer Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3409942	chr3:138066287-138068835	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138057400-138066400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:138062800-138066600	Weak transcription	Ovary	ovary
3	chr3:138064000-138066400	Weak transcription	Pancreas	Pancrea
4	chr3:138064800-138066400	Weak transcription	Liver	Liver
5	chr3:138065600-138066400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:138065600-138066600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr3:138065600-138066600	Weak transcription	HSMMtube	muscle
8	chr3:138066000-138066400	Enhancers	Brain Hippocampus Middle	brain
9	chr3:138066000-138067800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
10	chr3:138066000-138068000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:138066000-138068000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:138066000-138068000	Active TSS	Monocytes-CD14+_RO01746	blood
13	chr3:138066000-138068400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:138066200-138066400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:138066200-138066400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
16	chr3:138066200-138066400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:138066200-138066400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr3:138066200-138066400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
19	chr3:138066200-138066400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr3:138066200-138066400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:138066200-138066400	Enhancers	Colon Smooth Muscle	Colon
22	chr3:138066200-138066400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
23	chr3:138066200-138066400	Enhancers	Fetal Brain Male	brain
24	chr3:138066200-138066400	Enhancers	Fetal Muscle Leg	muscle
25	chr3:138066200-138066400	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr3:138066200-138066400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr3:138066200-138066400	Enhancers	HMEC	breast
28	chr3:138066200-138066600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
29	chr3:138066200-138066600	Active TSS	Adipose Nuclei	Adipose
30	chr3:138066200-138066600	Bivalent Enhancer	Fetal Intestine Large	intestine
31	chr3:138066200-138066600	Enhancers	Placenta	Placenta
32	chr3:138066200-138066600	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr3:138066200-138066600	Flanking Active TSS	HepG2	liver
34	chr3:138066200-138066600	Enhancers	HUVEC	blood vessel
35	chr3:138066200-138066800	Flanking Active TSS	Hela-S3	cervix
36	chr3:138066200-138067000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:138066200-138068000	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr3:138066200-138068000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:138066200-138068000	Active TSS	Fetal Lung	lung
40	chr3:138066200-138068000	Active TSS	NHDF-Ad	bronchial
41	chr3:138066200-138068200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:138066200-138068200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:138066200-138068200	Active TSS	Brain Angular Gyrus	brain
44	chr3:138066200-138068200	Active TSS	Brain Anterior Caudate	brain
45	chr3:138066200-138068200	Active TSS	Brain Cingulate Gyrus	brain
46	chr3:138066200-138068200	Active TSS	Brain Substantia Nigra	brain
47	chr3:138066200-138068200	Active TSS	Fetal Brain Female	brain
48	chr3:138066200-138068400	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr3:138066200-138068400	Active TSS	A549	lung
50	chr3:138066200-138068600	Active TSS	ES-I3 Cell Line	embryonic stem cell

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