Variant report

Variant	esv16984
Chromosome Location	chr17:33705204-33716191
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:33715403-33715497	Lung_OC	lung:	n/a	n/a
2	CTCF	chr17:33714500-33714616	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr17:33710084-33710105	GM10266	blood:	n/a	n/a
4	GATA3	chr17:33711369-33711687	T-47D	breast:	n/a	n/a
5	GATA3	chr17:33711454-33711645	T-47D	breast:	n/a	n/a
6	SPI1	chr17:33707082-33707230	K562	blood:	n/a	n/a
7	STAT3	chr17:33715394-33715623	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
SLFN11	TF binding region
ENSG00000267315	TF binding region

Extended variants
information (count: 184 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533646415	chr17:33705235-33705236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550366252	chr17:33705242-33705243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567162914	chr17:33705249-33705250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71381434	chr17:33705250-33705251	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs36071872	chr17:33705273-33705274	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs564873018	chr17:33705298-33705299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116006660	chr17:33705342-33705343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34777220	chr17:33705358-33705359	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs111485470	chr17:33705364-33705365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578145933	chr17:33705377-33705378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181673913	chr17:33705383-33705384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185747508	chr17:33705398-33705399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188842868	chr17:33705403-33705404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181279028	chr17:33705454-33705455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149079052	chr17:33705460-33705461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34027158	chr17:33705467-33705468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9972970	chr17:33705468-33705469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
18	rs374884296	chr17:33705470-33705471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370815484	chr17:33705479-33705480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546848476	chr17:33705506-33705507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185433398	chr17:33705510-33705511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553788592	chr17:33705533-33705534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150794826	chr17:33705556-33705557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551368516	chr17:33705616-33705617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567981838	chr17:33705618-33705619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189786723	chr17:33705620-33705621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550292950	chr17:33705624-33705625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62080983	chr17:33705633-33705634	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs557955221	chr17:33705638-33705639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536465747	chr17:33705691-33705692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148326996	chr17:33705759-33705760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371816668	chr17:33705825-33705826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555863839	chr17:33705867-33705868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547423098	chr17:33705889-33705890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117058836	chr17:33705941-33705942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140519034	chr17:33705949-33705950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145635610	chr17:33706001-33706002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183948634	chr17:33706054-33706055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537427478	chr17:33706079-33706080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557518513	chr17:33706149-33706150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574154430	chr17:33706186-33706187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376114765	chr17:33706259-33706260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543225420	chr17:33706265-33706266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372199182	chr17:33706266-33706267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553252733	chr17:33706276-33706277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368345702	chr17:33706281-33706282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573487030	chr17:33706298-33706299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542109453	chr17:33706304-33706305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28827270	chr17:33706314-33706315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373379224	chr17:33706333-33706334	Weak transcription	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
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33702000-33706000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr17:33702200-33707000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr17:33704800-33705800	Weak transcription	Colon Smooth Muscle	Colon
4	chr17:33705200-33705800	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr17:33705800-33706000	Enhancers	Colon Smooth Muscle	Colon
6	chr17:33705800-33708200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr17:33706000-33707000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr17:33707000-33707400	Enhancers	Primary B cells from peripheral blood	blood
9	chr17:33707000-33709600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr17:33707400-33708200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr17:33708200-33709400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr17:33708200-33709600	Enhancers	Primary B cells from peripheral blood	blood
13	chr17:33708600-33709400	Enhancers	Primary B cells from cord blood	blood
14	chr17:33708800-33709200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:33716000-33717200	Enhancers	Monocytes-CD14+_RO01746	blood

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