Variant report

Variant	esv3485807
Chromosome Location	chr17:45219291-45219690
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:84)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:84 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr17:45219072-45219456	K562	blood:	n/a	n/a
2	BRF2	chr17:45219077-45219542	Hela-S3	cervix:	n/a	n/a
3	CHD2	chr17:45219082-45219450	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr17:45219578-45219839	K562	blood:	n/a	n/a
5	CTCF	chr17:45219672-45219681	MCF-7	breast:	n/a	n/a
6	CTCF	chr17:45219220-45219370	AoAF	blood vessel:	n/a	n/a
7	CTCF	chr17:45219160-45219310	GM12868	blood:	n/a	n/a
8	CTCF	chr17:45219220-45219370	AG09309	skin:	n/a	n/a
9	CTCF	chr17:45219240-45219390	GM12865	blood:	n/a	n/a
10	CTCF	chr17:45219200-45219350	Caco-2	colon:	n/a	n/a
11	CTCF	chr17:45219160-45219310	RPTEC	kidney:	n/a	n/a
12	CTCF	chr17:45219220-45219370	AG04450	lung:	n/a	n/a
13	CTCF	chr17:45219200-45219350	BJ	skin:	n/a	n/a
14	CTCF	chr17:45219160-45219310	HRPEpiC	eye:	n/a	n/a
15	CTCF	chr17:45219220-45219370	GM12868	blood:	n/a	n/a
16	CTCF	chr17:45219160-45219310	HFF-Myc	foreskin:	n/a	n/a
17	CTCF	chr17:45219160-45219310	NHLF	lung:	n/a	n/a
18	CTCF	chr17:45219220-45219370	AG04449	skin:	n/a	n/a
19	CTCF	chr17:45219160-45219310	GM12866	blood:	n/a	n/a
20	CTCF	chr17:45219200-45219350	HRE	kidney:	n/a	n/a
21	CTCF	chr17:45219240-45219390	GM12801	blood:	n/a	n/a
22	CTCF	chr17:45219160-45219310	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr17:45219160-45219310	HAc	cerebellar:	n/a	n/a
24	CTCF	chr17:45219160-45219310	HA-sp	spinal cord:	n/a	n/a
25	CTCF	chr17:45219160-45219310	WI-38	lung:	n/a	n/a
26	CTCF	chr17:45219220-45219370	GM12870	blood:	n/a	n/a
27	CTCF	chr17:45219180-45219330	HCM	heart:	n/a	n/a
28	CTCF	chr17:45219160-45219310	HCT-116	colon:	n/a	n/a
29	CTCF	chr17:45219160-45219310	MCF-7	breast:	n/a	n/a
30	CTCF	chr17:45219200-45219350	HFF-Myc	foreskin:	n/a	n/a
31	CTCF	chr17:45219220-45219370	GM12871	blood:	n/a	n/a
32	EBF1	chr17:45219644-45219869	GM12878	blood:	n/a	n/a
33	ELK1	chr17:45219079-45219451	Hela-S3	cervix:	n/a	n/a
34	EP300	chr17:45219527-45219850	GM12878	blood:	n/a	n/a
35	FAM48A	chr17:45219073-45219446	GM12878	blood:	n/a	n/a
36	FOXP2	chr17:45219148-45219445	SK-N-MC	brain:	n/a	n/a
37	GATA3	chr17:45219093-45219456	SH-SY5Y	brain:	n/a	n/a
38	GTF2F1	chr17:45219072-45219457	H1-hESC	embryonic stem cell:	n/a	n/a
39	GTF2F1	chr17:45219073-45219458	K562	blood:	n/a	n/a
40	GTF3C2	chr17:45219094-45219801	Hela-S3	cervix:	n/a	n/a
41	HEY1	chr17:45219537-45219845	K562	blood:	n/a	n/a
42	IKZF1	chr17:45219092-45219443	GM12878	blood:	n/a	n/a
43	IRF1	chr17:45219077-45219452	K562	blood:	n/a	chr17:45219164-45219178
44	MAZ	chr17:45219071-45219453	Hela-S3	cervix:	n/a	n/a
45	MYC	chr17:45219631-45219762	GM12878	blood:	n/a	n/a
46	MYC	chr17:45219631-45219682	MCF-7	breast:	n/a	n/a
47	PAX5	chr17:45219551-45219827	GM12878	blood:	n/a	n/a
48	PAX5	chr17:45219501-45219881	GM12878	blood:	n/a	n/a
49	PBX3	chr17:45219594-45219809	GM12878	blood:	n/a	n/a
50	POLR2A	chr17:45219648-45219665	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45219278..45221259-chr2:133018860..133021838,2	MCF-7	breast:

No data

Variant related genes	Relation type
CDC27	TF binding region
ENSG00000233786	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79487913	chr17:45219296-45219297	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs113472284	chr17:45219299-45219300	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs75894512	chr17:45219310-45219311	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs140737545	chr17:45219311-45219312	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs546395575	chr17:45219318-45219319	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs555462910	chr17:45219320-45219321	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs201468566	chr17:45219321-45219322	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs62077261	chr17:45219332-45219333	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs199779693	chr17:45219342-45219343	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs7220394	chr17:45219354-45219355	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs74496366	chr17:45219364-45219365	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs201720462	chr17:45219383-45219384	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs77870608	chr17:45219387-45219388	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs150409033	chr17:45219406-45219407	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs374698945	chr17:45219427-45219428	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs568854269	chr17:45219469-45219470	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs187081544	chr17:45219522-45219523	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs557960814	chr17:45219530-45219531	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs200216131	chr17:45219549-45219550	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs577784847	chr17:45219554-45219555	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs191120547	chr17:45219563-45219564	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs553984532	chr17:45219565-45219566	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs75012977	chr17:45219620-45219621	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs76334365	chr17:45219621-45219622	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs76894625	chr17:45219635-45219636	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs75580209	chr17:45219637-45219638	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs77510601	chr17:45219643-45219644	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs79929872	chr17:45219646-45219647	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs199754068	chr17:45219650-45219651	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs200226011	chr17:45219652-45219653	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs79107865	chr17:45219667-45219668	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs11491191	chr17:45219669-45219670	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs78080061	chr17:45219686-45219687	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs200712699	chr17:45219688-45219689	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs35468341	chr17:45219690-45219691	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

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

Chromatin state (count:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45194800-45234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr17:45214600-45229200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr17:45214800-45234200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr17:45214800-45234200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:45215200-45229400	Strong transcription	Brain Germinal Matrix	brain
6	chr17:45216400-45221200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr17:45216400-45228800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr17:45216400-45232600	Strong transcription	Osteobl	bone
9	chr17:45217000-45221000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr17:45217000-45223200	Strong transcription	Fetal Brain Female	brain
11	chr17:45218400-45220200	Weak transcription	Fetal Intestine Large	intestine
12	chr17:45218400-45220800	Weak transcription	HSMMtube	muscle
13	chr17:45218800-45219400	ZNF genes & repeats	Colon Smooth Muscle	Colon
14	chr17:45219000-45219400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr17:45219000-45219400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr17:45219000-45219400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr17:45219000-45219400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:45219000-45219400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
19	chr17:45219000-45219400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr17:45219000-45219400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr17:45219000-45219400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr17:45219000-45219400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr17:45219000-45219400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
24	chr17:45219000-45219400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr17:45219000-45219400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr17:45219000-45219400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr17:45219000-45219400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:45219000-45219400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr17:45219000-45219400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
30	chr17:45219000-45219400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
31	chr17:45219000-45219400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
32	chr17:45219000-45219400	ZNF genes & repeats	Primary B cells from cord blood	blood
33	chr17:45219000-45219400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
34	chr17:45219000-45219400	ZNF genes & repeats	Primary T cells from cord blood	blood
35	chr17:45219000-45219400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
36	chr17:45219000-45219400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
37	chr17:45219000-45219400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
38	chr17:45219000-45219400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
39	chr17:45219000-45219400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
40	chr17:45219000-45219400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
41	chr17:45219000-45219400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
42	chr17:45219000-45219400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
43	chr17:45219000-45219400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
44	chr17:45219000-45219400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr17:45219000-45219400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
46	chr17:45219000-45219400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
47	chr17:45219000-45219400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
48	chr17:45219000-45219400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr17:45219000-45219400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr17:45219000-45219400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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