Variant report

Variant	rs73288419
Chromosome Location	chr17:17319918-17319919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17308878..17311513-chr17:17316490..17320191,4	MCF-7	breast:
2	chr17:17318799..17322004-chr17:17396586..17401319,4	MCF-7	breast:
3	chr17:17319589..17321575-chr17:17348151..17350364,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108551	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs28469179	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28605635	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7215472	0.95[AFR][1000 genomes]
rs7215537	0.95[AFR][1000 genomes]
rs73288417	0.95[AFR][1000 genomes]
rs9899041	0.95[AFR][1000 genomes]
rs9910270	0.81[AFR][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	nsv1058849	chr17:17308009-17348548	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1058804	chr17:17308984-17348548	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1062207	chr17:17310099-17344599	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv543234	chr17:17310099-17344599	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv574523	chr17:17310886-17347995	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1056137	chr17:17311017-17348939	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv543235	chr17:17311017-17348939	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17308000-17322200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr17:17315200-17320600	Enhancers	Dnd41	blood
3	chr17:17315400-17322800	Enhancers	Fetal Thymus	thymus
4	chr17:17316800-17321000	Enhancers	Brain Substantia Nigra	brain
5	chr17:17317000-17327200	Enhancers	Fetal Muscle Leg	muscle
6	chr17:17317200-17320400	Enhancers	Hela-S3	cervix
7	chr17:17317200-17321000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr17:17317200-17324400	Enhancers	Left Ventricle	heart
9	chr17:17317400-17320600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr17:17317600-17320000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr17:17317600-17322200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr17:17317800-17320400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr17:17317800-17320400	Enhancers	HMEC	breast
14	chr17:17317800-17320600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr17:17317800-17320800	Enhancers	NHDF-Ad	bronchial
16	chr17:17318000-17320400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr17:17318000-17320600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr17:17318000-17321000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr17:17318200-17320000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr17:17318200-17320200	Enhancers	NHLF	lung
21	chr17:17318200-17320400	Enhancers	NH-A	brain
22	chr17:17318200-17320400	Enhancers	Osteobl	bone
23	chr17:17318200-17320600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr17:17318200-17320600	Enhancers	Adipose Nuclei	Adipose
25	chr17:17318200-17320600	Enhancers	Brain Angular Gyrus	brain
26	chr17:17318200-17321000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr17:17318400-17320400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:17318400-17322000	Enhancers	HSMM	muscle
29	chr17:17318400-17322800	Weak transcription	Fetal Brain Male	brain
30	chr17:17318400-17324600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:17318600-17320600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr17:17318800-17322600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr17:17318800-17324400	Enhancers	HepG2	liver
34	chr17:17319000-17320200	Enhancers	NHEK	skin
35	chr17:17319000-17320600	Enhancers	Brain Anterior Caudate	brain
36	chr17:17319000-17320600	Enhancers	Brain Hippocampus Middle	brain
37	chr17:17319000-17320800	Enhancers	Primary T cells from cord blood	blood
38	chr17:17319000-17320800	Enhancers	Primary hematopoietic stem cells	blood
39	chr17:17319000-17320800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr17:17319000-17321400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr17:17319200-17320400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr17:17319200-17320400	Flanking Active TSS	A549	lung
43	chr17:17319200-17320600	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr17:17319200-17320600	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr17:17319200-17320600	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr17:17319200-17320800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr17:17319200-17322200	Enhancers	HSMMtube	muscle
48	chr17:17319200-17325000	Enhancers	K562	blood
49	chr17:17319400-17320200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr17:17319400-17320200	Enhancers	Primary B cells from peripheral blood	blood

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