Variant report

Variant	rs153117
Chromosome Location	chr5:106848982-106848983
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:106845576..106847414-chr5:106848462..106850704,2	MCF-7	breast:
2	chr5:106848396..106850133-chr5:106859068..106861011,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs153100	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17534270	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106836400-106855800	Weak transcription	Aorta	Aorta
2	chr5:106838200-106850000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr5:106838400-106851800	Weak transcription	NHDF-Ad	bronchial
4	chr5:106838600-106850600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:106838600-106855600	Weak transcription	Right Ventricle	heart
6	chr5:106839200-106855600	Weak transcription	HSMM	muscle
7	chr5:106842400-106880000	Weak transcription	Gastric	stomach
8	chr5:106844400-106849600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:106844400-106850000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:106845600-106850800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:106845800-106850800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:106845800-106855600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:106846000-106855800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:106846600-106849800	Weak transcription	A549	lung
15	chr5:106847000-106850800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:106847200-106849400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:106847200-106850600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:106847200-106850600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr5:106847200-106853200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:106847400-106849800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:106847400-106850800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:106847400-106850800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:106847400-106851000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:106847600-106849400	Enhancers	GM12878-XiMat	blood
25	chr5:106847600-106850800	Enhancers	Thymus	Thymus
26	chr5:106847600-106851000	Enhancers	Fetal Thymus	thymus
27	chr5:106847600-106851000	Enhancers	Dnd41	blood
28	chr5:106847800-106850200	Enhancers	H9 Cell Line	embryonic stem cell
29	chr5:106847800-106850800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr5:106848000-106850200	Enhancers	Fetal Heart	heart
31	chr5:106848200-106851000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr5:106848200-106851400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:106848200-106853200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr5:106848400-106850400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr5:106848400-106855800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:106848600-106849200	Enhancers	Left Ventricle	heart
37	chr5:106848600-106849600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:106848600-106849800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:106848600-106850800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:106848600-106850800	Enhancers	HMEC	breast
41	chr5:106848600-106851000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:106848800-106849000	Enhancers	Esophagus	oesophagus
43	chr5:106848800-106849000	Enhancers	Fetal Stomach	stomach
44	chr5:106848800-106850000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:106848800-106850600	Enhancers	Placenta Amnion	Placenta Amnion
46	chr5:106848800-106865000	Weak transcription	Right Atrium	heart

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