Variant report

Variant	rs13178564
Chromosome Location	chr5:114894108-114894109
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114893635..114896285-chr5:114902455..114905206,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13162494	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17472591	0.95[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72815264	1.00[ASN][1000 genomes]

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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114889400-114895600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:114891200-114895600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:114892400-114895800	Enhancers	HUVEC	blood vessel
4	chr5:114892600-114894200	Enhancers	Primary T cells from cord blood	blood
5	chr5:114892600-114894200	Enhancers	Dnd41	blood
6	chr5:114892600-114897200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:114892800-114894200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:114892800-114896200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr5:114893000-114894200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr5:114893000-114894200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:114893000-114894200	Enhancers	Brain Anterior Caudate	brain
12	chr5:114893000-114894600	Enhancers	Stomach Mucosa	stomach
13	chr5:114893000-114894800	Enhancers	Liver	Liver
14	chr5:114893200-114894200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:114893200-114894200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:114893200-114894200	Enhancers	Right Ventricle	heart
17	chr5:114893200-114894400	Enhancers	HSMMtube	muscle
18	chr5:114893200-114894600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr5:114893200-114896000	Enhancers	Osteobl	bone
20	chr5:114893400-114894200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:114893400-114894200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr5:114893400-114894200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr5:114893400-114894400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:114893400-114894600	Enhancers	Psoas Muscle	Psoas
25	chr5:114893600-114894400	Enhancers	HepG2	liver
26	chr5:114893600-114894400	Enhancers	NHLF	lung
27	chr5:114893600-114896200	Enhancers	NH-A	brain
28	chr5:114893600-114896600	Enhancers	HSMM	muscle
29	chr5:114893600-114896600	Enhancers	NHDF-Ad	bronchial
30	chr5:114893800-114894200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:114893800-114894400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:114893800-114894400	Enhancers	Brain Hippocampus Middle	brain
33	chr5:114893800-114894600	Enhancers	HMEC	breast
34	chr5:114893800-114895000	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr5:114893800-114895200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:114893800-114897200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:114894000-114894400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:114894000-114894600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr5:114894000-114894600	Enhancers	NHEK	skin
40	chr5:114894000-114895600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr5:114894000-114897000	Weak transcription	Placenta	Placenta
42	chr5:114894000-114907200	Weak transcription	Pancreas	Pancrea

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