Variant report

Variant	rs527754834
Chromosome Location	chr17:17583606-17583607
allele	A/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17582120..17584481-chr17:17669635..17672296,2	K562	blood:
2	chr17:17583267..17586800-chr17:17714001..17718221,4	K562	blood:
3	chr17:17581707..17587972-chr17:17684185..17691006,14	MCF-7	breast:
4	chr17:17583605..17586318-chr17:17753777..17755939,2	K562	blood:
5	chr17:17583519..17585283-chr17:17719170..17722055,2	MCF-7	breast:
6	chr17:17582541..17589441-chr17:17738170..17742091,10	K562	blood:
7	chr17:17583171..17587600-chr17:17683205..17687633,5	MCF-7	breast:
8	chr17:17583267..17584889-chr17:17715443..17717177,2	K562	blood:
9	chr17:17582010..17583856-chr17:17705972..17708012,2	K562	blood:
10	chr17:17580850..17587926-chr17:17737733..17744809,17	MCF-7	breast:
11	chr17:17582010..17584605-chr17:17704588..17707472,2	K562	blood:
12	chr17:17583537..17586679-chr17:17711908..17715201,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175662	Chromatin interaction
ENSG00000108557	Chromatin interaction
ENSG00000207839	Chromatin interaction
ENSG00000072310	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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	esv3369275	chr17:17583127-17586825	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17576600-17584000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr17:17576600-17584200	Weak transcription	Right Atrium	heart
3	chr17:17576800-17584200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr17:17577000-17584200	Weak transcription	Left Ventricle	heart
5	chr17:17579800-17584200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr17:17579800-17584200	Weak transcription	Esophagus	oesophagus
7	chr17:17579800-17584200	Weak transcription	NH-A	brain
8	chr17:17580000-17584200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr17:17580000-17584200	Weak transcription	Fetal Lung	lung
10	chr17:17580000-17584200	Weak transcription	Lung	lung
11	chr17:17580000-17584200	Weak transcription	A549	lung
12	chr17:17580200-17584000	Weak transcription	Fetal Intestine Small	intestine
13	chr17:17580400-17584000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr17:17580400-17584000	Weak transcription	Hela-S3	cervix
15	chr17:17580400-17584200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr17:17580600-17584000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr17:17580600-17584000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr17:17580600-17584000	Weak transcription	Fetal Kidney	kidney
19	chr17:17580600-17584200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr17:17580600-17584200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr17:17580600-17584200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr17:17580600-17584200	Weak transcription	Thymus	Thymus
23	chr17:17580600-17584400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr17:17580600-17585200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr17:17580800-17583800	Weak transcription	Fetal Thymus	thymus
26	chr17:17580800-17584000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr17:17580800-17584200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr17:17580800-17584200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr17:17580800-17584200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr17:17580800-17584600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr17:17581000-17584800	Weak transcription	Primary T cells from cord blood	blood
32	chr17:17581000-17586400	Weak transcription	Fetal Heart	heart
33	chr17:17581200-17583800	Weak transcription	Fetal Muscle Leg	muscle
34	chr17:17581200-17584000	Weak transcription	Fetal Intestine Large	intestine
35	chr17:17581200-17584200	Weak transcription	Brain Hippocampus Middle	brain
36	chr17:17581200-17584200	Weak transcription	Spleen	Spleen
37	chr17:17581200-17584200	Weak transcription	NHEK	skin
38	chr17:17581400-17584000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr17:17581400-17584000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr17:17581400-17584000	Weak transcription	HMEC	breast
41	chr17:17581400-17584200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr17:17581400-17584200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr17:17581400-17584200	Weak transcription	GM12878-XiMat	blood
44	chr17:17581400-17584800	Weak transcription	HUVEC	blood vessel
45	chr17:17582000-17584400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr17:17582000-17584600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr17:17583200-17584000	Bivalent Enhancer	HepG2	liver
48	chr17:17583400-17584000	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr17:17583600-17583800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr17:17583600-17583800	Enhancers	Rectal Mucosa Donor 31	rectum

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