Variant report

Variant	esv3333194
Chromosome Location	chr17:45249306-45249495
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:187)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:187 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr17:45249115-45249522	K562	blood:	n/a	n/a
2	ATF3	chr17:45249238-45249371	K562	blood:	n/a	n/a
3	BACH1	chr17:45249113-45249530	K562	blood:	n/a	n/a
4	BCL3	chr17:45249209-45249491	GM12878	blood:	n/a	n/a
5	BRCA1	chr17:45249114-45249534	GM12878	blood:	n/a	n/a
6	BRCA1	chr17:45249109-45249530	Hela-S3	cervix:	n/a	n/a
7	BRF2	chr17:45249141-45249524	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr17:45249135-45249516	HepG2	liver:	n/a	chr17:45249301-45249312
9	CEBPB	chr17:45249111-45249526	Hela-S3	cervix:	n/a	chr17:45249301-45249312
10	CEBPB	chr17:45249109-45249528	K562	blood:	n/a	chr17:45249301-45249312
11	CHD2	chr17:45249129-45249530	K562	blood:	n/a	n/a
12	CTCF	chr17:45249260-45249410	GM12872	blood:	n/a	n/a
13	CTCF	chr17:45249220-45249370	AG09319	gingival:	n/a	n/a
14	CTCF	chr17:45249180-45249330	AG09319	gingival:	n/a	n/a
15	CTCF	chr17:45249281-45249306	MCF-7	breast:	n/a	n/a
16	CTCF	chr17:45249220-45249370	NHDF-neo	bronchial:	n/a	n/a
17	CTCF	chr17:45249200-45249350	HBMEC	blood vessel:	n/a	n/a
18	CTCF	chr17:45249220-45249370	AG04449	skin:	n/a	n/a
19	CTCF	chr17:45249320-45249470	HEEpiC	esophagus:	n/a	n/a
20	CTCF	chr17:45249243-45249347	GM19239	blood:	n/a	n/a
21	CTCF	chr17:45249200-45249350	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr17:45249220-45249370	RPTEC	kidney:	n/a	n/a
23	CTCF	chr17:45249220-45249370	HCM	heart:	n/a	n/a
24	CTCF	chr17:45249200-45249350	HPF	lung:	n/a	n/a
25	CTCF	chr17:45249220-45249370	GM12864	blood:	n/a	n/a
26	CTCF	chr17:45249267-45249349	LNCaP	prostate:	n/a	n/a
27	CTCF	chr17:45249220-45249370	WI-38	lung:	n/a	n/a
28	CTCF	chr17:45249257-45249319	GM19240	blood:	n/a	n/a
29	CTCF	chr17:45249200-45249350	HEEpiC	esophagus:	n/a	n/a
30	CTCF	chr17:45249260-45249410	AoAF	blood vessel:	n/a	n/a
31	CTCF	chr17:45249200-45249350	GM12873	blood:	n/a	n/a
32	CTCF	chr17:45249300-45249450	HRE	kidney:	n/a	n/a
33	CTCF	chr17:45249252-45249445	GM10248	blood:	n/a	n/a
34	CTCF	chr17:45249200-45249350	AoAF	blood vessel:	n/a	n/a
35	CTCF	chr17:45249225-45249322	GM12878	blood:	n/a	n/a
36	CTCF	chr17:45249187-45249434	MCF-7	breast:	n/a	n/a
37	CTCF	chr17:45249200-45249350	AG04450	lung:	n/a	n/a
38	CTCF	chr17:45249200-45249350	HPAF	blood vessel:	n/a	n/a
39	CTCF	chr17:45249180-45249330	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr17:45249240-45249390	GM12870	blood:	n/a	n/a
41	CTCF	chr17:45249180-45249330	HMF	breast:	n/a	n/a
42	CTCF	chr17:45249260-45249410	HepG2	liver:	n/a	n/a
43	CTCF	chr17:45249220-45249370	NHLF	lung:	n/a	n/a
44	CTCF	chr17:45249242-45249324	GM12892	blood:	n/a	n/a
45	CTCF	chr17:45249220-45249370	GM12871	blood:	n/a	n/a
46	CTCF	chr17:45249200-45249350	HMF	breast:	n/a	n/a
47	CTCF	chr17:45249260-45249410	GM12864	blood:	n/a	n/a
48	CTCF	chr17:45249200-45249350	HRE	kidney:	n/a	n/a
49	CTCF	chr17:45249220-45249370	HBMEC	blood vessel:	n/a	n/a
50	CTCF	chr17:45249220-45249370	MCF-7	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45247336..45250133-chr17:45265157..45267526,3	MCF-7	breast:
2	chr17:45248819..45249322-chr2:133018957..133019458,2	MCF-7	breast:
3	chr17:45249463..45251128-chr17:45254076..45256037,2	K562	blood:

No data

Variant related genes	Relation type
CDC27	TF binding region
ENSG00000004897	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62077265	chr17:45249306-45249307	ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs62077266	chr17:45249316-45249317	ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs144676189	chr17:45249324-45249325	ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs148510863	chr17:45249327-45249328	ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs142853734	chr17:45249328-45249329	ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs1058201	chr17:45249330-45249331	ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs76782714	chr17:45249335-45249336	ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs199907013	chr17:45249360-45249361	ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs62077268	chr17:45249365-45249366	ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs62077269	chr17:45249372-45249373	ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs62077270	chr17:45249391-45249392	ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs62077271	chr17:45249399-45249400	ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs62077272	chr17:45249408-45249409	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs564718671	chr17:45249450-45249451	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs371622399	chr17:45249465-45249466	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs182288360	chr17:45249477-45249478	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	17142309	CNVD
Breast cancer	16397240	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Autism	22817714	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45234600-45249400	Strong transcription	A549	lung
2	chr17:45246400-45251600	Weak transcription	Fetal Brain Female	brain
3	chr17:45246600-45251600	Weak transcription	Brain Germinal Matrix	brain
4	chr17:45246800-45251200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr17:45246800-45254400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr17:45247600-45255400	Strong transcription	HepG2	liver
7	chr17:45248400-45250800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr17:45249000-45249600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
9	chr17:45249200-45249400	Genic enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr17:45249200-45249400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr17:45249200-45249400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr17:45249200-45249400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr17:45249200-45249400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr17:45249200-45249400	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
15	chr17:45249200-45249600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr17:45249200-45249600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr17:45249200-45249600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr17:45249200-45249600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr17:45249200-45249600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr17:45249200-45249600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
21	chr17:45249200-45249600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:45249200-45249600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr17:45249200-45249600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr17:45249200-45249600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr17:45249200-45249600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr17:45249200-45249600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr17:45249200-45249600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr17:45249200-45249600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr17:45249200-45249600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr17:45249200-45249600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
31	chr17:45249200-45249600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
32	chr17:45249200-45249600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr17:45249200-45249600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr17:45249200-45249600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr17:45249200-45249600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
36	chr17:45249200-45249600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr17:45249200-45249600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr17:45249200-45249600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr17:45249200-45249600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr17:45249200-45249600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
41	chr17:45249200-45249600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
42	chr17:45249200-45249600	ZNF genes & repeats	Primary B cells from cord blood	blood
43	chr17:45249200-45249600	ZNF genes & repeats	Primary T cells from cord blood	blood
44	chr17:45249200-45249600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
45	chr17:45249200-45249600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
46	chr17:45249200-45249600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr17:45249200-45249600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
48	chr17:45249200-45249600	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
49	chr17:45249200-45249600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
50	chr17:45249200-45249600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood

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