Variant report

Variant	rs72752517
Chromosome Location	chr5:43193713-43193714
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43192100..43194083-chr5:43481713..43484639,2	MCF-7	breast:
2	chr5:43191118..43192645-chr5:43192728..43194544,2	K562	blood:
3	chr5:43120206..43121723-chr5:43192557..43194191,2	MCF-7	breast:
4	chr5:43105902..43106419-chr5:43193340..43194097,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172262	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000177453	Chromatin interaction
ENSG00000249492	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs72748852	0.83[AMR][1000 genomes]
rs72748875	0.88[AMR][1000 genomes]
rs72752508	0.88[EUR][1000 genomes]
rs72752513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43191000-43193800	Active TSS	Brain Cingulate Gyrus	brain
2	chr5:43191000-43194200	Active TSS	Brain Anterior Caudate	brain
3	chr5:43191200-43194200	Active TSS	NHDF-Ad	bronchial
4	chr5:43191200-43194400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr5:43191200-43194800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:43191600-43193800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr5:43191600-43193800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:43191600-43194000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr5:43191600-43194000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
10	chr5:43191600-43194600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:43191600-43194800	Active TSS	Brain Angular Gyrus	brain
12	chr5:43191800-43193800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:43191800-43193800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
14	chr5:43191800-43193800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr5:43191800-43194200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr5:43191800-43195000	Active TSS	Brain Substantia Nigra	brain
17	chr5:43192000-43193800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:43192000-43193800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
19	chr5:43192000-43193800	Active TSS	Stomach Mucosa	stomach
20	chr5:43192000-43194000	Active TSS	Aorta	Aorta
21	chr5:43192000-43194000	Active TSS	Fetal Brain Female	brain
22	chr5:43192000-43194200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr5:43192000-43194200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:43192000-43194200	Active TSS	Brain Hippocampus Middle	brain
25	chr5:43192000-43194200	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr5:43192000-43194600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:43192200-43194000	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr5:43192200-43194000	Active TSS	HSMMtube	muscle
29	chr5:43192200-43194600	Active TSS	NHLF	lung
30	chr5:43192400-43194000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
31	chr5:43192400-43194400	Flanking Active TSS	NH-A	brain
32	chr5:43192600-43194000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
33	chr5:43192600-43194400	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr5:43192600-43194400	Flanking Active TSS	GM12878-XiMat	blood
35	chr5:43192800-43193800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:43192800-43194200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:43193000-43193800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:43193000-43193800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:43193000-43193800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
40	chr5:43193000-43193800	Bivalent/Poised TSS	Fetal Kidney	kidney
41	chr5:43193000-43193800	Flanking Active TSS	Placenta	Placenta
42	chr5:43193000-43193800	Active TSS	Ovary	ovary
43	chr5:43193000-43194000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:43193000-43194000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr5:43193000-43194200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:43193000-43194200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:43193000-43194200	Active TSS	Right Atrium	heart
48	chr5:43193000-43194200	Active TSS	Stomach Smooth Muscle	stomach
49	chr5:43193000-43194400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:43193000-43194600	Enhancers	Placenta Amnion	Placenta Amnion

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