Variant report

Variant	rs17451678
Chromosome Location	chr8:119134630-119134631
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119122766..119127102-chr8:119131319..119136472,9	MCF-7	breast:
2	chr20:43976657..43977280-chr8:119134398..119135041,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124145	Chromatin interaction
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1457201	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2445912	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2445923	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2451141	0.87[EUR][1000 genomes]
rs2451167	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2468140	1.00[EUR][1000 genomes]
rs2468153	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2468155	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2514745	0.87[EUR][1000 genomes]
rs2514762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4324944	1.00[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	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv891412	chr8:119107051-119139385	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	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	chr8:119124800-119136200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:119125400-119138200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:119125800-119134800	Weak transcription	Esophagus	oesophagus
4	chr8:119125800-119149600	Weak transcription	Aorta	Aorta
5	chr8:119126200-119137400	Weak transcription	Lung	lung
6	chr8:119131600-119135000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:119132000-119135400	Enhancers	NHEK	skin
8	chr8:119132000-119136600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:119132800-119139000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:119133200-119135400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:119133200-119136000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:119133200-119138400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr8:119133400-119135200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:119133400-119138200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:119133400-119138600	Weak transcription	NHLF	lung
16	chr8:119133400-119138800	Weak transcription	HUVEC	blood vessel
17	chr8:119133800-119135000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:119134000-119134800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:119134000-119135000	Enhancers	HMEC	breast
20	chr8:119134000-119135800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:119134000-119136200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr8:119134200-119134800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:119134200-119135200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr8:119134200-119135200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:119134200-119135200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:119134200-119135400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr8:119134200-119135400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:119134200-119136400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr8:119134200-119136400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr8:119134200-119136600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr8:119134400-119135000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr8:119134400-119135200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:119134400-119135200	Enhancers	H9 Cell Line	embryonic stem cell
34	chr8:119134400-119135200	Enhancers	HepG2	liver
35	chr8:119134600-119135000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr8:119134600-119135000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:119134600-119135000	Enhancers	Primary hematopoietic stem cells	blood
38	chr8:119134600-119135200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr8:119134600-119135200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:119134600-119135200	Enhancers	Fetal Thymus	thymus
41	chr8:119134600-119135200	Enhancers	Stomach Mucosa	stomach
42	chr8:119134600-119135200	Enhancers	Thymus	Thymus

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