Variant report

Variant	esv3345563
Chromosome Location	chr17:50313705-50314130
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368991342	chr17:50313707-50313708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76094143	chr17:50313744-50313745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558845395	chr17:50313755-50313756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565854288	chr17:50313761-50313762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374933864	chr17:50313767-50313768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372021761	chr17:50313768-50313769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534831971	chr17:50313784-50313785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554670102	chr17:50313791-50313792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186326955	chr17:50313831-50313832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543357633	chr17:50313842-50313843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549920476	chr17:50313846-50313847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527861336	chr17:50313872-50313873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs60637504	chr17:50313882-50313883	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs576813763	chr17:50313909-50313910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545362774	chr17:50313971-50313972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59868824	chr17:50314023-50314024	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs563219721	chr17:50314045-50314046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541244188	chr17:50314051-50314052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs8066203	chr17:50314073-50314074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12936870	chr17:50314078-50314079	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs372847753	chr17:50314090-50314091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Cervical cancer	21062161	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
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chordoma	18071362	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myeloproliferative neoplasm	20015882	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Medulloblastoma	16783165	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:50312000-50314200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr17:50313600-50314600	Weak transcription	HMEC	breast

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