Variant report

Variant	rs554185095
Chromosome Location	chr5:106725876-106725877
allele	A/C
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	TCF12	chr5:106723701-106725983	A549	lung:	n/a	chr5:106724885-106724892

Variant related genes	Relation type
EFNA5	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv527761	chr5:106725691-106728586	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106720400-106740800	Weak transcription	Aorta	Aorta
2	chr5:106723200-106726000	Enhancers	Dnd41	blood
3	chr5:106723400-106726000	Enhancers	Stomach Mucosa	stomach
4	chr5:106723600-106726000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:106723600-106726000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:106723600-106726000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr5:106723600-106726200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr5:106723600-106728200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:106723600-106732000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:106724000-106726000	Enhancers	HMEC	breast
11	chr5:106724000-106728200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:106724200-106730200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:106724600-106726000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr5:106724800-106726000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:106724800-106729000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr5:106725000-106726000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr5:106725000-106726000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:106725000-106726000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr5:106725000-106729800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:106725200-106726200	Enhancers	NHDF-Ad	bronchial
21	chr5:106725200-106729600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:106725200-106730000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:106725200-106733800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:106725400-106726000	Enhancers	Primary B cells from cord blood	blood
25	chr5:106725400-106726200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr5:106725400-106726200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr5:106725400-106726200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:106725400-106726200	Enhancers	HUVEC	blood vessel
29	chr5:106725400-106727400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr5:106725400-106729400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:106725400-106729400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:106725400-106729600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr5:106725600-106726000	Enhancers	Primary hematopoietic stem cells	blood
34	chr5:106725600-106726000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr5:106725600-106726200	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr5:106725600-106727000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:106725600-106728200	Weak transcription	Fetal Kidney	kidney
38	chr5:106725600-106729200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:106725600-106729400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:106725600-106729600	Weak transcription	Fetal Lung	lung
41	chr5:106725600-106732200	Weak transcription	Left Ventricle	heart
42	chr5:106725800-106726000	Enhancers	GM12878-XiMat	blood
43	chr5:106725800-106726200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:106725800-106726200	Enhancers	A549	lung
45	chr5:106725800-106727000	Weak transcription	HSMM	muscle
46	chr5:106725800-106727800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:106725800-106727800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:106725800-106729400	Weak transcription	NHLF	lung
49	chr5:106725800-106729800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr5:106725800-106730200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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