Variant report

Variant	rs573305451
Chromosome Location	chr17:19769866-19769867
allele	C/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	chr17:19769855-19770132	HepG2	liver:	n/a	chr17:19769955-19769972 chr17:19769958-19769970
2	CEBPB	chr17:19769796-19770190	A549	lung:	n/a	chr17:19769955-19769972 chr17:19769958-19769970
3	FOS	chr17:19769860-19770076	MCF10A-Er-Src	breast:	n/a	n/a
4	TFAP2C	chr17:19769847-19770669	Hela-S3	cervix:	n/a	chr17:19770199-19770214
5	GTF2F1	chr17:19769799-19770480	Hela-S3	cervix:	n/a	n/a
6	BRCA1	chr17:19769827-19770473	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr17:19769762-19770632	A549	lung:	n/a	chr17:19769955-19769972 chr17:19769958-19769970
8	CEBPB	chr17:19769785-19770202	ECC-1	luminal epithelium:	n/a	chr17:19769955-19769972 chr17:19769958-19769970
9	SIN3AK20	chr17:19769863-19770767	A549	lung:	n/a	n/a
10	RCOR1	chr17:19769823-19770610	Hela-S3	cervix:	n/a	n/a
11	FOS	chr17:19769827-19770142	MCF10A-Er-Src	breast:	n/a	n/a
12	MYC	chr17:19769773-19771389	MCF10A-Er-Src	breast:	n/a	n/a
13	TCF12	chr17:19769721-19771998	A549	lung:	n/a	n/a
14	CEBPB	chr17:19769830-19770167	IMR90	lung:	n/a	chr17:19769955-19769972 chr17:19769958-19769970
15	CTCF	chr17:19769654-19772275	A549	lung:	n/a	chr17:19771337-19771350 chr17:19771299-19771312 chr17:19770938-19770951 chr17:19771520-19771533 chr17:19771481-19771494
16	SP1	chr17:19769788-19770781	A549	lung:	n/a	n/a
17	CEBPB	chr17:19769864-19770147	H1-hESC	embryonic stem cell:	n/a	chr17:19769955-19769972 chr17:19769958-19769970
18	MYC	chr17:19769692-19771615	A549	lung:	n/a	n/a
19	MAX	chr17:19769804-19771574	ECC-1	luminal epithelium:	n/a	n/a
20	TBP	chr17:19769844-19770355	Hela-S3	cervix:	n/a	n/a
21	RFX5	chr17:19769829-19770613	Hela-S3	cervix:	n/a	n/a
22	EP300	chr17:19769797-19770343	Hela-S3	cervix:	n/a	n/a
23	SIN3AK20	chr17:19769805-19770833	MCF-7	breast:	n/a	n/a
24	MAX	chr17:19769743-19770587	Hela-S3	cervix:	n/a	n/a
25	CHD2	chr17:19769825-19770733	Hela-S3	cervix:	n/a	n/a
26	FOS	chr17:19769851-19770056	MCF10A-Er-Src	breast:	n/a	n/a
27	CEBPB	chr17:19769839-19770224	A549	lung:	n/a	chr17:19769955-19769972 chr17:19769958-19769970
28	MAX	chr17:19769825-19771792	A549	lung:	n/a	n/a
29	CEBPB	chr17:19769719-19770553	Hela-S3	cervix:	n/a	chr17:19769955-19769972 chr17:19769958-19769970
30	POLR2A	chr17:19769862-19771428	MCF10A-Er-Src	breast:	n/a	n/a
31	MAX	chr17:19769825-19771675	A549	lung:	n/a	n/a
32	MYC	chr17:19769840-19770194	MCF10A-Er-Src	breast:	n/a	n/a
33	USF2	chr17:19769852-19769993	Hela-S3	cervix:	n/a	n/a
34	MXI1	chr17:19769850-19770381	Hela-S3	cervix:	n/a	n/a
35	STAT3	chr17:19769863-19770057	MCF10A-Er-Src	breast:	n/a	chr17:19769940-19769947

No.	Distal block	Cell Line	Cell type
1	chr17:19769588..19772074-chr17:19879592..19882526,4	MCF-7	breast:
2	chr17:19769802..19772027-chr17:19799780..19804333,4	MCF-7	breast:
3	chr17:19752348..19754374-chr17:19768940..19771870,2	MCF-7	breast:
4	chr17:19769754..19773058-chr17:19878983..19882883,4	MCF-7	breast:

Variant related genes	Relation type
ULK2	TF binding region
ENSG00000083290	Chromatin interaction
ENSG00000270091	Chromatin interaction
ENSG00000108599	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv482398	chr17:19673458-19808039	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1057469	chr17:19696714-19787062	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3371214	chr17:19768660-19773258	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv3402031	chr17:19769585-19772133	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 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	chr17:19701000-19770000	Weak transcription	Colonic Mucosa	Colon
2	chr17:19704400-19770000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr17:19728000-19770000	Weak transcription	Esophagus	oesophagus
4	chr17:19728200-19770000	Weak transcription	Pancreas	Pancrea
5	chr17:19744200-19770200	Weak transcription	Gastric	stomach
6	chr17:19749600-19770000	Weak transcription	Right Ventricle	heart
7	chr17:19750000-19770000	Weak transcription	Left Ventricle	heart
8	chr17:19750200-19770000	Weak transcription	Aorta	Aorta
9	chr17:19750800-19770200	Weak transcription	Spleen	Spleen
10	chr17:19755600-19770000	Weak transcription	Lung	lung
11	chr17:19763200-19770000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr17:19763200-19770200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr17:19764600-19770000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr17:19764800-19770000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr17:19768400-19770000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr17:19768400-19770000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr17:19768600-19771400	Active TSS	GM12878-XiMat	blood
18	chr17:19768800-19770000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr17:19769000-19770000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr17:19769000-19771800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:19769200-19770000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr17:19769200-19771400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr17:19769400-19770000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr17:19769400-19770000	Enhancers	Primary hematopoietic stem cells	blood
25	chr17:19769400-19770000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr17:19769400-19770000	Weak transcription	Brain Angular Gyrus	brain
27	chr17:19769400-19770200	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr17:19769400-19770400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr17:19769400-19771400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr17:19769400-19771400	Active TSS	Brain Anterior Caudate	brain
31	chr17:19769400-19771800	Active TSS	A549	lung
32	chr17:19769600-19770000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:19769600-19770200	Enhancers	Small Intestine	intestine
34	chr17:19769600-19771800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr17:19769800-19770000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr17:19769800-19770000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr17:19769800-19770000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr17:19769800-19770000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr17:19769800-19770000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr17:19769800-19770000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr17:19769800-19770000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr17:19769800-19770000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr17:19769800-19770000	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr17:19769800-19770000	Enhancers	Primary B cells from peripheral blood	blood
45	chr17:19769800-19770000	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr17:19769800-19770000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr17:19769800-19770000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr17:19769800-19770000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr17:19769800-19770000	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr17:19769800-19770000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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