Variant report

Variant	rs144155421
Chromosome Location	chr17:45259305-45259306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr17:45258766-45259309	K562	blood:	n/a	n/a

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

Variant related genes	Relation type
CDC27	TF binding region
ENSG00000233786	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:124 , 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	chr17:45257600-45259400	Genic enhancers	HepG2	liver
6	chr17:45258600-45259400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr17:45258800-45259400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr17:45258800-45259400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr17:45258800-45259400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr17:45258800-45259400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
11	chr17:45258800-45259400	ZNF genes & repeats	Fetal Thymus	thymus
12	chr17:45258800-45259400	ZNF genes & repeats	Dnd41	blood
13	chr17:45258800-45259400	ZNF genes & repeats	K562	blood
14	chr17:45259000-45259400	Genic enhancers	Fetal Brain Female	brain
15	chr17:45259000-45259600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr17:45259000-45265600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr17:45259200-45259400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr17:45259200-45259400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr17:45259200-45259400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr17:45259200-45259400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr17:45259200-45259400	Bivalent Enhancer	Left Ventricle	heart
22	chr17:45259200-45259400	Bivalent Enhancer	Small Intestine	intestine
23	chr17:45259200-45259600	Enhancers	Fetal Heart	heart
24	chr17:45259200-45259800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr17:45259200-45259800	Weak transcription	GM12878-XiMat	blood
26	chr17:45259200-45259800	Weak transcription	HUVEC	blood vessel
27	chr17:45259200-45260000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:45259200-45260000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr17:45259200-45260000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr17:45259200-45260000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr17:45259200-45260000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr17:45259200-45260000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr17:45259200-45260000	Weak transcription	Colon Smooth Muscle	Colon
34	chr17:45259200-45260000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr17:45259200-45260200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr17:45259200-45260400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr17:45259200-45260400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr17:45259200-45260400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr17:45259200-45260400	Weak transcription	HSMM	muscle
40	chr17:45259200-45260600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr17:45259200-45261000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr17:45259200-45261000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr17:45259200-45261000	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr17:45259200-45261000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr17:45259200-45261000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr17:45259200-45261200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr17:45259200-45261400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr17:45259200-45261400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr17:45259200-45261400	Weak transcription	Brain Angular Gyrus	brain
50	chr17:45259200-45261400	Weak transcription	Brain Cingulate Gyrus	brain

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