Variant report

Variant	rs534149499
Chromosome Location	chr17:45260021-45260022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45230648..45232405-chr17:45259040..45262576,3	K562	blood:
2	chr17:45259720..45263817-chr17:45399412..45402337,5	K562	blood:
3	chr17:45257479..45260473-chr2:133018355..133021074,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233786	Chromatin interaction
ENSG00000263293	Chromatin interaction
ENSG00000178852	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	esv3584	chr17:45246216-45265642	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3790	chr17:45247093-45261518	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv6873	chr17:45247370-45266575	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3438623	chr17:45249255-45266618	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv8330	chr17:45249307-45266621	Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv3374428	chr17:45249343-45266580	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv960117	chr17:45257797-45260714	Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv3373405	chr17:45258905-45266622	Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv3414401	chr17:45258915-45266609	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv3522393	chr17:45258921-45266590	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv3522394	chr17:45258921-45266590	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv3392762	chr17:45258946-45266562	Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	esv3314731	chr17:45258949-45266545	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	esv3314732	chr17:45258949-45266545	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	esv3397910	chr17:45258965-45266531	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	esv4785	chr17:45258973-45266557	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	esv4323	chr17:45258973-45266558	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	esv3416394	chr17:45259161-45266566	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45251200-45260600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr17:45253200-45265200	Weak transcription	Brain Germinal Matrix	brain
3	chr17:45255200-45263200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr17:45257000-45265600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr17:45259000-45265600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr17:45259200-45260200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr17:45259200-45260400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr17:45259200-45260400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr17:45259200-45260400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr17:45259200-45260400	Weak transcription	HSMM	muscle
11	chr17:45259200-45260600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr17:45259200-45261000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr17:45259200-45261000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr17:45259200-45261000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr17:45259200-45261000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr17:45259200-45261000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr17:45259200-45261200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr17:45259200-45261400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr17:45259200-45261400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr17:45259200-45261400	Weak transcription	Brain Angular Gyrus	brain
21	chr17:45259200-45261400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr17:45259200-45261400	Weak transcription	A549	lung
23	chr17:45259200-45261800	Weak transcription	Fetal Brain Male	brain
24	chr17:45259200-45261800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr17:45259200-45261800	Weak transcription	NHDF-Ad	bronchial
26	chr17:45259200-45262000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr17:45259200-45262000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr17:45259200-45262000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr17:45259200-45262000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr17:45259200-45262000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr17:45259200-45262000	Weak transcription	Primary T cells from cord blood	blood
32	chr17:45259200-45262000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr17:45259200-45262000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr17:45259200-45262000	Weak transcription	Adipose Nuclei	Adipose
35	chr17:45259200-45262000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr17:45259200-45262000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr17:45259200-45262000	Weak transcription	Fetal Lung	lung
38	chr17:45259200-45262000	Weak transcription	Fetal Muscle Leg	muscle
39	chr17:45259200-45262000	Weak transcription	Ovary	ovary
40	chr17:45259200-45262000	Weak transcription	Pancreas	Pancrea
41	chr17:45259200-45262000	Weak transcription	Psoas Muscle	Psoas
42	chr17:45259200-45262000	Weak transcription	Right Atrium	heart
43	chr17:45259200-45262000	Weak transcription	Right Ventricle	heart
44	chr17:45259200-45262000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr17:45259200-45262000	Weak transcription	NHLF	lung
46	chr17:45259200-45262800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr17:45259200-45263000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr17:45259200-45263000	Weak transcription	Fetal Stomach	stomach
49	chr17:45259200-45263200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr17:45259200-45263200	Weak transcription	Liver	Liver

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