Variant report

Variant	esv3392389
Chromosome Location	chr17:46286830-46287068
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46283277..46285503-chr17:46286877..46289567,2	K562	blood:
2	chr17:46285290..46288098-chr17:46289757..46292675,2	K562	blood:
3	chr17:46286598..46289280-chr17:46291175..46294782,3	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8077814	chr17:46286889-46286890	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534189116	chr17:46286893-46286894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554078003	chr17:46286936-46286937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534321503	chr17:46286943-46286944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542660072	chr17:46286945-46286946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556228229	chr17:46286975-46286976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111648170	chr17:46287009-46287010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576440225	chr17:46287059-46287060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545174278	chr17:46287060-46287061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
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
Urothelial carcinoma	21177765	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
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Anaplastic thyroid cancer	18753363	CNVD
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46266800-46298600	Weak transcription	Thymus	Thymus
2	chr17:46266800-46318200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr17:46273200-46293000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr17:46273200-46302800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr17:46273200-46314000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr17:46273600-46287200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr17:46274000-46290000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr17:46274200-46297200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr17:46275200-46287400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr17:46277400-46287200	Weak transcription	GM12878-XiMat	blood
11	chr17:46280000-46295800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr17:46281200-46287000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr17:46282800-46288000	Weak transcription	Fetal Thymus	thymus
14	chr17:46283400-46287400	Weak transcription	Primary T cells from cord blood	blood
15	chr17:46283600-46287000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr17:46283600-46292800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr17:46283600-46314000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr17:46286800-46288400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr17:46286800-46297400	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr17:46287000-46290200	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr17:46287000-46291600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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