Variant report

Variant	esv3415572
Chromosome Location	chr17:59803004-59803266
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:59801364..59804296-chr6:151936458..151938783,2	MCF-7	breast:
2	chr1:121484409..121485400-chr17:59802534..59803138,2	MCF-7	breast:
3	chr17:59489613..59491206-chr17:59800419..59803266,2	MCF-7	breast:
4	chr17:59802211..59804083-chr20:55691299..55693617,2	MCF-7	breast:
5	chr17:59802918..59807240-chr17:59907754..59912579,5	MCF-7	breast:
6	chr17:59800856..59804163-chr17:59876065..59879949,4	MCF-7	breast:
7	chr17:59802662..59805086-chr17:59913603..59915717,2	MCF-7	breast:
8	chr17:59802319..59804545-chr20:50350734..50353080,2	MCF-7	breast:
9	chr17:59798896..59803310-chr17:59938470..59941648,4	MCF-7	breast:
10	chr17:59801109..59803625-chr8:101320526..101322625,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000136492	chromatin interactions
ENSG00000207422	chromatin interactions
ENSG00000215444	chromatin interactions
ENSG00000034677	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569074351	chr17:59803035-59803036	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs537658279	chr17:59803087-59803088	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs566454815	chr17:59803090-59803091	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs183105259	chr17:59803130-59803131	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs527417279	chr17:59803152-59803153	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs201604334	chr17:59803153-59803154	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs151212291	chr17:59803176-59803177	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs533993748	chr17:59803214-59803215	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs140403439	chr17:59803224-59803225	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs577143909	chr17:59803229-59803230	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs540176822	chr17:59803246-59803247	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs556572150	chr17:59803253-59803254	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	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
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
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	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
Breast cancer	21364760	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21467264	CNVD
Ovarian neoplasms	16753589	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
XY sex reversal	17503084	CNVD
Sensorineural hearing loss	22052739	CNVD
intellectual deficit	22052739	CNVD
no characteristic dysmorphism	22052739	CNVD
speech delay	22052739	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17899364	CNVD
Multiple myeloma	16616336	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16620391	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59766000-59819000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr17:59778200-59805800	Weak transcription	Thymus	Thymus
3	chr17:59781600-59835400	Weak transcription	Hela-S3	cervix
4	chr17:59784400-59815200	Weak transcription	HMEC	breast
5	chr17:59786600-59815400	Weak transcription	Fetal Thymus	thymus
6	chr17:59792000-59815200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr17:59793200-59803400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr17:59793200-59819400	Weak transcription	NH-A	brain
9	chr17:59793600-59821200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr17:59794200-59815200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr17:59794200-59819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr17:59794400-59815200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:59794400-59816200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr17:59794400-59848200	Weak transcription	HUVEC	blood vessel
15	chr17:59794600-59807200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr17:59794800-59806000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr17:59794800-59815200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr17:59796200-59805600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr17:59796200-59805800	Weak transcription	A549	lung
20	chr17:59796200-59814400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr17:59797400-59817600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr17:59797600-59813000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr17:59798200-59803400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:59798400-59803400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr17:59798400-59815000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr17:59798800-59816400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr17:59800800-59814400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr17:59801000-59815400	Weak transcription	HepG2	liver
29	chr17:59801200-59817400	Weak transcription	Small Intestine	intestine
30	chr17:59801600-59805800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:59801600-59815000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr17:59801600-59816200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr17:59802000-59808600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr17:59803000-59804600	Strong transcription	Dnd41	blood
35	chr17:59803000-59808000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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