Variant report

Variant	rs540552614
Chromosome Location	chr17:17580298-17580299
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17576687..17578428-chr17:17578837..17580472,2	K562	blood:
2	chr17:17576955..17580952-chr17:17581294..17585850,4	MCF-7	breast:
3	chr17:17578367..17581846-chr17:17711367..17714822,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108557	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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
11	nsv1061126	chr17:17578826-17803194	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
12	nsv543238	chr17:17578826-17803194	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer 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	80 gene(s)	inside rSNPs	diseases
13	nsv543239	chr17:17580295-17599851	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17574800-17583600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr17:17576600-17584000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr17:17576600-17584200	Weak transcription	Right Atrium	heart
4	chr17:17576800-17581000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr17:17576800-17584200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr17:17577000-17584200	Weak transcription	Left Ventricle	heart
7	chr17:17578200-17581400	Enhancers	HMEC	breast
8	chr17:17578400-17580600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr17:17578400-17581400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr17:17578600-17580600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:17578600-17580800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr17:17578600-17580800	Enhancers	Fetal Thymus	thymus
13	chr17:17578600-17581400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr17:17578600-17581400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr17:17578600-17582000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr17:17578800-17580400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
17	chr17:17578800-17580400	Enhancers	Hela-S3	cervix
18	chr17:17579000-17580400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr17:17579000-17580400	Enhancers	Primary hematopoietic stem cells	blood
20	chr17:17579000-17580400	Enhancers	Duodenum Mucosa	Duodenum
21	chr17:17579000-17580600	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr17:17579000-17580600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr17:17579000-17580600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr17:17579000-17580600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr17:17579000-17581000	Enhancers	Primary T cells from cord blood	blood
26	chr17:17579000-17581000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr17:17579200-17580400	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr17:17579200-17580400	Enhancers	K562	blood
29	chr17:17579200-17580600	Enhancers	Primary T cells fromperipheralblood	blood
30	chr17:17579200-17580600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr17:17579200-17580600	Enhancers	Thymus	Thymus
32	chr17:17579200-17580800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr17:17579200-17580800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr17:17579200-17581000	Enhancers	Fetal Heart	heart
35	chr17:17579200-17581400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr17:17579200-17581400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr17:17579200-17581400	Enhancers	HUVEC	blood vessel
38	chr17:17579400-17580400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr17:17579400-17580400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr17:17579400-17580600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr17:17579400-17580600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr17:17579400-17580800	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr17:17579400-17581200	Enhancers	Fetal Intestine Large	intestine
44	chr17:17579400-17581200	Enhancers	Spleen	Spleen
45	chr17:17579600-17580400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr17:17579600-17580600	Enhancers	Primary B cells from peripheral blood	blood
47	chr17:17579600-17581400	Enhancers	HepG2	liver
48	chr17:17579800-17580800	Weak transcription	Fetal Muscle Leg	muscle
49	chr17:17579800-17581200	Enhancers	NHEK	skin
50	chr17:17579800-17581400	Enhancers	GM12878-XiMat	blood

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