Variant report

Variant	rs375572489
Chromosome Location	chr17:19556191-19556192
allele	-/GT
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	FOXA1	chr17:19555883-19556251	T-47D	breast:	n/a	n/a
2	MYC	chr17:19555877-19556226	MCF10A-Er-Src	breast:	n/a	n/a
3	EP300	chr17:19555870-19556265	T-47D	breast:	n/a	chr17:19555978-19555988
4	CEBPB	chr17:19555990-19556286	Hela-S3	cervix:	n/a	n/a
5	FOS	chr17:19555923-19556300	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr17:19555169-19556316	MCF10A-Er-Src	breast:	n/a	chr17:19555328-19555340 chr17:19555330-19555338 chr17:19555329-19555339
7	FOS	chr17:19555045-19556263	MCF10A-Er-Src	breast:	n/a	chr17:19555328-19555340 chr17:19555330-19555338 chr17:19555329-19555339
8	CEBPB	chr17:19555969-19556309	A549	lung:	n/a	n/a
9	FOXA1	chr17:19555766-19556229	T-47D	breast:	n/a	n/a
10	CEBPB	chr17:19555988-19556295	HepG2	liver:	n/a	n/a
11	NFIC	chr17:19556049-19556306	HepG2	liver:	n/a	chr17:19556165-19556181 chr17:19556164-19556181
12	MYC	chr17:19554917-19556211	MCF10A-Er-Src	breast:	n/a	n/a
13	CEBPB	chr17:19556033-19556201	HepG2	liver:	n/a	n/a
14	FOS	chr17:19555168-19556317	MCF10A-Er-Src	breast:	n/a	chr17:19555328-19555340 chr17:19555330-19555338 chr17:19555329-19555339
15	GATA3	chr17:19555925-19556321	T-47D	breast:	n/a	n/a
16	STAT3	chr17:19555912-19556206	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ALDH3A2	TF binding region
ENSG00000264932	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428337	chr17:19340045-19585774	Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv482827	chr17:19456848-19645771	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1061408	chr17:19458185-19613357	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	esv2757654	chr17:19485735-19563766	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	esv2758679	chr17:19485735-19563766	Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv1055361	chr17:19515267-19582503	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	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
8	nsv934250	chr17:19551657-19561421	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv933216	chr17:19555486-19561421	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv932912	chr17:19555923-19556219	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv1766609	chr17:19556190-19556192	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19552600-19556400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:19552800-19557600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:19552800-19557800	Weak transcription	Placenta	Placenta
4	chr17:19553200-19556600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr17:19553200-19556800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr17:19553200-19557800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:19553200-19558200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr17:19553200-19558200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr17:19553200-19558400	Weak transcription	Primary T cells from cord blood	blood
10	chr17:19553200-19566800	Weak transcription	Primary B cells from cord blood	blood
11	chr17:19553200-19577400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr17:19553200-19580000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr17:19553400-19556200	Enhancers	Fetal Lung	lung
14	chr17:19553400-19556400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr17:19553400-19556800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr17:19553400-19556800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr17:19553400-19558200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr17:19553400-19566400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr17:19553600-19556400	Enhancers	Osteobl	bone
20	chr17:19553600-19557600	Weak transcription	Ovary	ovary
21	chr17:19553800-19556200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr17:19553800-19556600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr17:19553800-19556800	Weak transcription	Spleen	Spleen
24	chr17:19553800-19560000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr17:19554000-19556200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:19554000-19556200	Transcr. at gene 5' and 3'	A549	lung
27	chr17:19554200-19556400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:19554400-19556400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr17:19554400-19559400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr17:19554600-19556200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr17:19554600-19556200	Enhancers	Fetal Intestine Small	intestine
32	chr17:19554600-19557000	Enhancers	Stomach Mucosa	stomach
33	chr17:19554800-19556600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr17:19554800-19574400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr17:19555000-19556400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr17:19555000-19556600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr17:19555000-19556600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr17:19555000-19556600	Genic enhancers	Adipose Nuclei	Adipose
39	chr17:19555000-19558200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr17:19555000-19558200	Weak transcription	Fetal Brain Male	brain
41	chr17:19555000-19558400	Weak transcription	HSMM	muscle
42	chr17:19555000-19560400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr17:19555000-19561400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr17:19555000-19561400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr17:19555000-19563400	Strong transcription	Fetal Stomach	stomach
46	chr17:19555000-19568800	Weak transcription	NH-A	brain
47	chr17:19555000-19581800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr17:19555000-19582800	Weak transcription	HUVEC	blood vessel
49	chr17:19555200-19556200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr17:19555200-19556200	Genic enhancers	Hela-S3	cervix

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