Variant report

Variant	esv3501143
Chromosome Location	chr17:45219746-45220186
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:45219735-45219758	Medullo	brain:	n/a	n/a
2	CTCF	chr17:45219703-45219780	GM10248	blood:	n/a	n/a
3	CTCF	chr17:45219578-45219839	K562	blood:	n/a	n/a
4	EBF1	chr17:45219644-45219869	GM12878	blood:	n/a	n/a
5	EP300	chr17:45219527-45219850	GM12878	blood:	n/a	n/a
6	GTF3C2	chr17:45219094-45219801	Hela-S3	cervix:	n/a	n/a
7	HEY1	chr17:45219537-45219845	K562	blood:	n/a	n/a
8	IRF1	chr17:45219863-45219898	K562	blood:	n/a	n/a
9	MAFK	chr17:45219766-45219791	Hela-S3	cervix:	n/a	n/a
10	MYC	chr17:45219631-45219762	GM12878	blood:	n/a	n/a
11	PAX5	chr17:45219551-45219827	GM12878	blood:	n/a	n/a
12	PAX5	chr17:45219501-45219881	GM12878	blood:	n/a	n/a
13	PBX3	chr17:45219594-45219809	GM12878	blood:	n/a	n/a
14	POLR2A	chr17:45219578-45219764	K562	blood:	n/a	n/a
15	POU2F2	chr17:45219540-45219862	GM12878	blood:	n/a	n/a
16	RPC155	chr17:45219091-45219803	Hela-S3	cervix:	n/a	n/a
17	SIN3AK20	chr17:45219582-45219826	HepG2	liver:	n/a	n/a
18	SIN3AK20	chr17:45219712-45219800	HepG2	liver:	n/a	n/a
19	SIX5	chr17:45219569-45219941	K562	blood:	n/a	n/a
20	SIX5	chr17:45219561-45219911	GM12878	blood:	n/a	n/a
21	SP1	chr17:45219696-45219818	HepG2	liver:	n/a	n/a
22	SPI1	chr17:45219582-45219820	K562	blood:	n/a	n/a
23	USF1	chr17:45219595-45219811	HepG2	liver:	n/a	n/a
24	ZBTB33	chr17:45219555-45219856	K562	blood:	n/a	n/a
25	ZBTB33	chr17:45219627-45219812	HepG2	liver:	n/a	n/a
26	ZZZ3	chr17:45219079-45219801	GM12878	blood:	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: 25 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74612656	chr17:45219746-45219747	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs74727415	chr17:45219750-45219751	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs17856362	chr17:45219766-45219767	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs200189475	chr17:45219770-45219771	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs78399615	chr17:45219792-45219793	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs75040309	chr17:45219794-45219795	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs544208833	chr17:45219800-45219801	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs372445288	chr17:45219805-45219806	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs11570525	chr17:45219892-45219893	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs9630738	chr17:45219962-45219963	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs527892869	chr17:45220051-45220052	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs182554120	chr17:45220090-45220091	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs371956906	chr17:45220116-45220117	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs559863888	chr17:45220117-45220118	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs200443406	chr17:45220130-45220131	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs11570524	chr17:45220138-45220139	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs11570523	chr17:45220147-45220148	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs374317486	chr17:45220148-45220149	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs568790652	chr17:45220150-45220151	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs202016550	chr17:45220159-45220160	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs187255909	chr17:45220160-45220161	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs551402780	chr17:45220169-45220170	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs527948231	chr17:45220170-45220171	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs533750762	chr17:45220171-45220172	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs560199914	chr17:45220172-45220173	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:137 , 50 per page) page: 1 2 3

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	chr17:45219000-45219800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chr17:45219000-45219800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr17:45219000-45219800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr17:45219000-45220000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
17	chr17:45219000-45220000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr17:45219000-45220000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr17:45219000-45220200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr17:45219000-45220200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
21	chr17:45219000-45221400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
22	chr17:45219000-45221400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr17:45219000-45221400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
24	chr17:45219000-45221400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr17:45219000-45221400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
26	chr17:45219000-45221400	ZNF genes & repeats	Left Ventricle	heart
27	chr17:45219000-45225200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr17:45219200-45219800	ZNF genes & repeats	Dnd41	blood
29	chr17:45219400-45219800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr17:45219400-45219800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr17:45219400-45219800	Weak transcription	Fetal Intestine Small	intestine
32	chr17:45219400-45219800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr17:45219400-45219800	Weak transcription	Fetal Muscle Leg	muscle
34	chr17:45219400-45219800	Weak transcription	Fetal Stomach	stomach
35	chr17:45219400-45220000	Weak transcription	A549	lung
36	chr17:45219400-45220200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr17:45219400-45220200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr17:45219400-45220200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr17:45219400-45220200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr17:45219400-45220200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr17:45219400-45220200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr17:45219400-45220200	Weak transcription	Thymus	Thymus
43	chr17:45219400-45220200	Weak transcription	Spleen	Spleen
44	chr17:45219400-45220400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr17:45219400-45220400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr17:45219400-45220800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr17:45219400-45220800	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr17:45219400-45220800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr17:45219400-45220800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr17:45219400-45220800	Weak transcription	Brain Angular Gyrus	brain

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