Variant report

Variant	rs12449807
Chromosome Location	chr17:17575668-17575669
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17574373..17576298-chr17:17580834..17583578,2	MCF-7	breast:
2	chr17:17574952..17576531-chr17:17584625..17586244,2	MCF-7	breast:
3	chr17:17564834..17568175-chr17:17574678..17576692,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108557	Chromatin interaction
ENSG00000223979	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13342369	0.89[ASN][1000 genomes]
rs28536528	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28669696	0.84[EUR][1000 genomes]
rs58788694	0.80[ASN][1000 genomes]
rs9303142	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs9890929	1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs9891823	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9897150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9905513	0.84[EUR][1000 genomes]
rs9907322	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv833384	chr17:17491483-17645648	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv869118	chr17:17509896-17599850	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv907751	chr17:17530554-17581184	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv907752	chr17:17569012-17750907	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
8	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
9	nsv907753	chr17:17573539-17747289	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
10	nsv907754	chr17:17573539-17782404	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17567200-17579200	Weak transcription	K562	blood
2	chr17:17568200-17576200	Weak transcription	Spleen	Spleen
3	chr17:17570000-17576000	Weak transcription	Right Ventricle	heart
4	chr17:17572200-17577600	Enhancers	Fetal Heart	heart
5	chr17:17573800-17576800	Enhancers	HMEC	breast
6	chr17:17573800-17579200	Weak transcription	Thymus	Thymus
7	chr17:17574000-17575800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr17:17574400-17576200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr17:17574400-17577400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr17:17574600-17576200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr17:17574800-17576600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:17574800-17579400	Weak transcription	Fetal Intestine Small	intestine
13	chr17:17574800-17583600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr17:17575000-17576000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr17:17575000-17576200	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr17:17575000-17576600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr17:17575000-17576600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr17:17575000-17576800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr17:17575000-17577200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr17:17575000-17579400	Weak transcription	Fetal Intestine Large	intestine
21	chr17:17575200-17576000	Weak transcription	Right Atrium	heart
22	chr17:17575200-17576200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr17:17575200-17576200	Weak transcription	Left Ventricle	heart
24	chr17:17575200-17576400	Enhancers	Primary B cells from cord blood	blood
25	chr17:17575200-17576600	Enhancers	NHEK	skin
26	chr17:17575200-17579000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr17:17575200-17579400	Weak transcription	Lung	lung
28	chr17:17575400-17575800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr17:17575400-17576000	Enhancers	HepG2	liver
30	chr17:17575400-17576200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr17:17575400-17576600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr17:17575400-17576800	Enhancers	Primary hematopoietic stem cells	blood
33	chr17:17575400-17577200	Enhancers	Fetal Thymus	thymus
34	chr17:17575400-17577400	Enhancers	Primary T cells from cord blood	blood
35	chr17:17575400-17578600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr17:17575600-17575800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr17:17575600-17575800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr17:17575600-17575800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr17:17575600-17576000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr17:17575600-17576200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr17:17575600-17576400	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr17:17575600-17576400	Enhancers	Hela-S3	cervix
43	chr17:17575600-17576600	Enhancers	Primary B cells from peripheral blood	blood
44	chr17:17575600-17576600	Enhancers	Primary T cells fromperipheralblood	blood
45	chr17:17575600-17576600	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr17:17575600-17577000	Enhancers	GM12878-XiMat	blood

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