Variant report

Variant	rs66725320
Chromosome Location	chr17:17598846-17598847
allele	-/C/CT/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17596211..17599216-chr17:17709321..17712358,3	MCF-7	breast:
2	chr17:17596728..17599207-chr2:239693825..239696213,2	MCF-7	breast:
3	chr17:17597833..17600762-chr17:17692593..17694977,2	MCF-7	breast:
4	chr17:17593686..17602682-chr17:17684488..17692992,14	MCF-7	breast:
5	chr17:17597308..17599805-chr17:17722220..17725065,2	MCF-7	breast:
6	chr17:17566041..17569411-chr17:17596920..17599764,3	MCF-7	breast:
7	chr17:17571014..17573975-chr17:17596687..17598856,2	K562	blood:
8	chr17:17596031..17599358-chr17:17737943..17741598,5	MCF-7	breast:
9	chr17:17597397..17599561-chr17:17661548..17663067,2	MCF-7	breast:
10	chr17:17596608..17599012-chr17:17739626..17742563,3	K562	blood:
11	chr17:17597749..17599526-chr17:17663082..17665675,2	MCF-7	breast:
12	chr17:17597823..17600507-chr17:17743270..17745727,2	K562	blood:
13	chr17:17591306..17603641-chr17:17622226..17637880,43	MCF-7	breast:
14	chr17:17597990..17601613-chr17:17723911..17725744,3	MCF-7	breast:
15	chr17:17594258..17600676-chr17:17738917..17745175,15	MCF-7	breast:
16	chr17:17594932..17600890-chr17:17651321..17655426,6	MCF-7	breast:
17	chr17:17596829..17599707-chr17:17608179..17611084,3	K562	blood:
18	chr17:17596357..17599284-chr17:17741696..17744327,3	MCF-7	breast:
19	chr17:17597022..17599037-chr17:57970421..57971942,2	MCF-7	breast:
20	chr17:17598092..17600072-chr17:17758359..17760671,2	MCF-7	breast:
21	chr17:17596840..17599239-chr17:17655841..17657576,2	MCF-7	breast:
22	chr17:17596829..17599707-chr17:17608593..17611084,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108557	Chromatin interaction
ENSG00000072310	Chromatin interaction
ENSG00000108443	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 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	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv907755	chr17:17581184-17610587	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv833385	chr17:17594037-17765578	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
15	nsv1058884	chr17:17594370-17803194	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
16	nsv543240	chr17:17594370-17803194	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' 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
17	nsv543241	chr17:17596222-17703059	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
18	nsv1064176	chr17:17596222-17803194	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
19	nsv543242	chr17:17596222-17803194	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
20	nsv1062361	chr17:17598407-17746899	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
21	nsv543243	chr17:17598407-17746899	Genic enhancers Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
22	nsv827911	chr17:17598715-17599975	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17594200-17599600	Enhancers	Fetal Brain Male	brain
2	chr17:17596200-17599400	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr17:17596400-17599400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr17:17596600-17599600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr17:17597200-17599200	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr17:17597200-17599400	Flanking Active TSS	Dnd41	blood
7	chr17:17597400-17607000	Enhancers	Fetal Heart	heart
8	chr17:17598200-17599000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr17:17598200-17599000	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr17:17598200-17599000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr17:17598200-17599000	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr17:17598400-17599000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr17:17598400-17599000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr17:17598400-17599000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr17:17598400-17599000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr17:17598400-17599000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr17:17598400-17599000	Flanking Active TSS	Liver	Liver
18	chr17:17598400-17599000	Flanking Active TSS	Colonic Mucosa	Colon
19	chr17:17598400-17599000	Flanking Active TSS	Fetal Muscle Leg	muscle
20	chr17:17598400-17599000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr17:17598400-17599000	Flanking Active TSS	Right Ventricle	heart
22	chr17:17598400-17599000	Active TSS	HepG2	liver
23	chr17:17598400-17599000	Flanking Active TSS	HSMMtube	muscle
24	chr17:17598400-17599200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr17:17598400-17599200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr17:17598400-17599200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr17:17598400-17599200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr17:17598400-17599200	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr17:17598400-17599200	Flanking Active TSS	Rectal Smooth Muscle	rectum
30	chr17:17598400-17599200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr17:17598400-17599200	Flanking Active TSS	Stomach Mucosa	stomach
32	chr17:17598400-17599200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr17:17598400-17599200	Flanking Active TSS	NHEK	skin
34	chr17:17598400-17599400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr17:17598400-17599400	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr17:17598400-17599400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr17:17598400-17599400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr17:17598400-17599400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr17:17598400-17599400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr17:17598400-17599400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr17:17598400-17599400	Flanking Active TSS	Osteobl	bone
42	chr17:17598600-17599000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
43	chr17:17598600-17599000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr17:17598600-17599000	Flanking Active TSS	Brain Angular Gyrus	brain
45	chr17:17598600-17599000	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr17:17598600-17599000	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr17:17598600-17599000	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr17:17598600-17599000	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr17:17598600-17599000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr17:17598600-17599000	Flanking Active TSS	Fetal Intestine Large	intestine

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