Variant report

Variant	rs57279462
Chromosome Location	chr5:112628586-112628587
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	chr5:112608585..112610553-chr5:112626855..112628809,2	MCF-7	breast:
2	chr5:112628328..112630254-chr5:112656025..112657722,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55754627	1.00[AFR][1000 genomes]
rs56096608	1.00[AFR][1000 genomes]
rs73244751	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1018078	chr5:112615220-112657404	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112617800-112628600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:112619000-112628600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:112619000-112628800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:112624000-112628600	Weak transcription	Esophagus	oesophagus
5	chr5:112624000-112628800	Weak transcription	Gastric	stomach
6	chr5:112625400-112628800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:112626800-112628600	Enhancers	Fetal Heart	heart
8	chr5:112626800-112631400	Active TSS	Ovary	ovary
9	chr5:112627000-112629000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:112627200-112628600	Weak transcription	Lung	lung
11	chr5:112627200-112628800	Weak transcription	Aorta	Aorta
12	chr5:112627200-112631200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:112627400-112631000	Active TSS	Psoas Muscle	Psoas
14	chr5:112627800-112629200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:112628000-112628600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr5:112628000-112628600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr5:112628000-112628800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr5:112628000-112628800	Active TSS	Right Ventricle	heart
19	chr5:112628000-112629000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr5:112628000-112629000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:112628200-112628600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr5:112628200-112628600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:112628200-112628600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:112628200-112628600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:112628200-112628600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:112628200-112628600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:112628200-112628600	Bivalent Enhancer	Fetal Lung	lung
28	chr5:112628200-112628800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr5:112628200-112628800	Active TSS	Fetal Kidney	kidney
30	chr5:112628200-112628800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
31	chr5:112628200-112629000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
32	chr5:112628200-112629000	Flanking Active TSS	NHEK	skin
33	chr5:112628200-112629200	Active TSS	Brain Cingulate Gyrus	brain
34	chr5:112628200-112629200	Flanking Active TSS	HUVEC	blood vessel
35	chr5:112628200-112629400	Active TSS	Placenta	Placenta
36	chr5:112628200-112629600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr5:112628200-112629600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
38	chr5:112628200-112629800	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr5:112628200-112630800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:112628200-112630800	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr5:112628200-112631000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:112628200-112631000	Active TSS	Brain Hippocampus Middle	brain
43	chr5:112628200-112631000	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr5:112628200-112631000	Active TSS	Brain Substantia Nigra	brain
45	chr5:112628200-112631000	Active TSS	Right Atrium	heart
46	chr5:112628200-112631000	Active TSS	Stomach Smooth Muscle	stomach
47	chr5:112628200-112631200	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr5:112628200-112631200	Active TSS	NHDF-Ad	bronchial
49	chr5:112628400-112628600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr5:112628400-112628600	Flanking Active TSS	H9 Cell Line	embryonic stem cell

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