Variant report

Variant	rs556075525
Chromosome Location	chr17:45250132-45250133
allele	C/T
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	chr17:45250084-45250424	K562	blood:	n/a	chr17:45250247-45250258 chr17:45250246-45250257 chr17:45250246-45250259 chr17:45250246-45250259
2	RUNX3	chr17:45250027-45250498	GM12878	blood:	n/a	chr17:45250219-45250228 chr17:45250219-45250228
3	CEBPB	chr17:45250092-45250429	A549	lung:	n/a	chr17:45250247-45250258 chr17:45250246-45250257 chr17:45250246-45250259 chr17:45250246-45250259
4	CEBPB	chr17:45250056-45250385	MCF-7	breast:	n/a	chr17:45250247-45250258 chr17:45250246-45250257 chr17:45250246-45250259 chr17:45250246-45250259
5	CEBPB	chr17:45249942-45250465	A549	lung:	n/a	chr17:45250247-45250258 chr17:45250246-45250257 chr17:45250246-45250259 chr17:45250246-45250259
6	CEBPB	chr17:45250074-45250436	IMR90	lung:	n/a	chr17:45250247-45250258 chr17:45250246-45250257 chr17:45250246-45250259 chr17:45250246-45250259
7	CEBPB	chr17:45250040-45250427	K562	blood:	n/a	chr17:45250247-45250258 chr17:45250246-45250257 chr17:45250246-45250259 chr17:45250246-45250259
8	CEBPB	chr17:45250061-45250429	Hela-S3	cervix:	n/a	chr17:45250247-45250258 chr17:45250246-45250257 chr17:45250246-45250259 chr17:45250246-45250259
9	CEBPB	chr17:45250097-45250432	HepG2	liver:	n/a	chr17:45250247-45250258 chr17:45250246-45250257 chr17:45250246-45250259 chr17:45250246-45250259

No.	Distal block	Cell Line	Cell type
1	chr17:45249463..45251128-chr17:45254076..45256037,2	K562	blood:
2	chr17:45247336..45250133-chr17:45265157..45267526,3	MCF-7	breast:
3	chr17:45249552..45252803-chr17:45263494..45265675,3	MCF-7	breast:

Variant related genes	Relation type
CDC27	TF binding region
ENSG00000004897	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	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
4	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
5	esv3344584	chr17:45247298-45258989	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	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
7	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
8	esv3437669	chr17:45249306-45259022	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	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
10	esv3314728	chr17:45249324-45258982	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv3314730	chr17:45249324-45258982	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv3431737	chr17:45249325-45259054	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	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
14	esv3362151	chr17:45249372-45258977	ZNF genes & repeats Strong transcription Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	esv3450592	chr17:45249392-45258947	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45246400-45251600	Weak transcription	Fetal Brain Female	brain
2	chr17:45246600-45251600	Weak transcription	Brain Germinal Matrix	brain
3	chr17:45246800-45251200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr17:45246800-45254400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr17:45247600-45255400	Strong transcription	HepG2	liver
6	chr17:45248400-45250800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr17:45249200-45251200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr17:45249400-45250200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr17:45249400-45250400	Weak transcription	A549	lung
10	chr17:45249400-45251200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:45249400-45256200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr17:45249600-45250200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr17:45249600-45250200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr17:45249600-45250200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr17:45249600-45250200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr17:45249600-45250200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr17:45249600-45250200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr17:45249600-45250200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr17:45249600-45250200	Weak transcription	Fetal Intestine Large	intestine
20	chr17:45249600-45250400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr17:45249600-45250800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr17:45249600-45250800	Weak transcription	HSMM	muscle
23	chr17:45249600-45250800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr17:45249600-45251000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr17:45249600-45251000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr17:45249600-45251000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr17:45249600-45251000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr17:45249600-45251000	Weak transcription	Osteobl	bone
29	chr17:45249600-45251200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr17:45249600-45251200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr17:45249600-45251200	Weak transcription	Adipose Nuclei	Adipose
32	chr17:45249600-45251200	Weak transcription	Fetal Intestine Small	intestine
33	chr17:45249600-45251200	Weak transcription	Fetal Muscle Leg	muscle
34	chr17:45249600-45251200	Weak transcription	Fetal Stomach	stomach
35	chr17:45249600-45251400	Weak transcription	Primary T cells from cord blood	blood
36	chr17:45249600-45251400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr17:45249600-45251400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr17:45249600-45251400	Weak transcription	Liver	Liver
39	chr17:45249600-45251400	Weak transcription	K562	blood
40	chr17:45249600-45251600	Weak transcription	Right Ventricle	heart
41	chr17:45249600-45252200	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr17:45249600-45252200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr17:45249600-45252400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr17:45249600-45252400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr17:45249600-45252400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr17:45249600-45252400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr17:45249600-45252400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr17:45249600-45252400	Weak transcription	NHDF-Ad	bronchial
49	chr17:45249600-45252400	Weak transcription	NHEK	skin
50	chr17:45249600-45252600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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