Variant report

Variant	esv3328966
Chromosome Location	chr17:33856439-33858587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9909880	chr17:33856439-33856440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543816768	chr17:33856447-33856448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9709357	chr17:33856457-33856458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563507310	chr17:33856459-33856460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529266193	chr17:33856514-33856515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549101514	chr17:33856526-33856527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565829596	chr17:33856585-33856586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148194458	chr17:33856601-33856602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375743592	chr17:33856655-33856656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551514594	chr17:33856733-33856734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571919488	chr17:33856741-33856742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537316379	chr17:33856775-33856776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557609297	chr17:33856795-33856796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567182666	chr17:33856845-33856846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140371923	chr17:33856897-33856898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553150642	chr17:33856914-33856915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199668234	chr17:33856954-33856955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77054140	chr17:33857104-33857105	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35836415	chr17:33857156-33857157	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545232678	chr17:33857193-33857194	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558432412	chr17:33857201-33857202	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12944752	chr17:33857221-33857222	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544209368	chr17:33857229-33857230	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190855273	chr17:33857232-33857233	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183926340	chr17:33857248-33857249	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542611035	chr17:33857292-33857293	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370948554	chr17:33857323-33857324	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189224997	chr17:33857377-33857378	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138105163	chr17:33857381-33857382	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142535789	chr17:33857398-33857399	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565363829	chr17:33857414-33857415	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs193093953	chr17:33857422-33857423	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146012845	chr17:33857426-33857427	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74503082	chr17:33857430-33857431	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200710004	chr17:33857433-33857434	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187400798	chr17:33857434-33857435	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs202086349	chr17:33857452-33857453	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377694388	chr17:33857457-33857458	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs8082511	chr17:33857460-33857461	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35519382	chr17:33857463-33857464	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536347369	chr17:33857464-33857465	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183979562	chr17:33857466-33857467	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs57438888	chr17:33857468-33857469	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531115695	chr17:33857486-33857487	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188318828	chr17:33857517-33857518	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375435908	chr17:33857525-33857526	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201455748	chr17:33857527-33857528	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375694652	chr17:33857531-33857532	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374099295	chr17:33857532-33857533	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192791935	chr17:33857535-33857536	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Melanoma	18172304	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cancer	20164919	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
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	17603634	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
Breast cancer	16397240	CNVD
Myxofibrosarcoma	16751306	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17157792	CNVD
Bladder cancer	19088036	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
Meningioma	19431122	CNVD
Neurocytoma	17123091	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Cervical cancer	21062161	CNVD
Colorectal cancer	22860045	CNVD
Ductal carcinoma	18381933	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16417655	CNVD
Renal cysts	20603712	CNVD
Epilepsy	21858020	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Autism	20587423	CNVD
Renal cysts	20587423	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Mayer-Rokitansky-Kuster-Hauser syndrome	19889212	CNVD
Endometrial cancer	23636398	CNVD
Urothelial cell carcinoma	18451213	CNVD
Gastric cancer	24379144	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	17850661	CNVD
Primary lung adenocarcinoma	16799635	CNVD
HIV/AIDS	18848619	CNVD
Rheumatoid arthritis	19220326	CNVD
Rheumatoid arthritis	18848619	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	18848619	CNVD
Type 1 diabetes	19220326	CNVD
HIV/AIDS	17330138	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Acute monocytic leukemia	16498392	CNVD
Breast cancer	20409316	CNVD
Myelodysplastic syndrome	18663149	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	19153074	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Adrenocortical carcinoma	18281524	CNVD
Lung cancer	21569311	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33850600-33857800	Weak transcription	Fetal Lung	lung
2	chr17:33851400-33862600	Weak transcription	Spleen	Spleen
3	chr17:33851600-33860600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr17:33851800-33857000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr17:33851800-33857800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr17:33852000-33857000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr17:33852000-33857600	Weak transcription	Primary T cells from cord blood	blood
8	chr17:33853600-33857000	Weak transcription	Dnd41	blood
9	chr17:33854600-33857000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr17:33854800-33857000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr17:33854800-33857600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr17:33855000-33856600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr17:33855000-33857000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr17:33855000-33857600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr17:33855000-33857600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr17:33855000-33857600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr17:33856200-33857000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr17:33856400-33856800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr17:33856600-33857600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr17:33856800-33860200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr17:33857000-33857600	Enhancers	Primary T cells fromperipheralblood	blood
22	chr17:33857000-33857600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr17:33857000-33857600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr17:33857000-33857600	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr17:33857000-33858000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr17:33857000-33858600	Genic enhancers	Dnd41	blood
27	chr17:33857000-33860000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr17:33857600-33857800	Enhancers	Primary T cells from cord blood	blood
29	chr17:33857600-33857800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr17:33857600-33857800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr17:33857600-33858000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr17:33857600-33858000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr17:33857600-33858000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr17:33857600-33858000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr17:33857600-33858000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr17:33857600-33858000	ZNF genes & repeats	GM12878-XiMat	blood
37	chr17:33857600-33858200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr17:33857600-33858200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr17:33857800-33858000	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr17:33857800-33858000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr17:33857800-33858200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr17:33857800-33858400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr17:33857800-33858600	Enhancers	Fetal Lung	lung
44	chr17:33858000-33858200	Enhancers	Primary T cells from cord blood	blood
45	chr17:33858000-33858200	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr17:33858000-33858200	Active TSS	GM12878-XiMat	blood
47	chr17:33858000-33858400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr17:33858000-33858800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr17:33858000-33858800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr17:33858000-33859000	Enhancers	Primary T cells fromperipheralblood	blood

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