Variant report

Variant	esv3447368
Chromosome Location	chr17:33683989-33686037
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	POLR2A	chr17:33684606-33684680	GM12878	blood:	n/a	n/a
2	STAT3	chr17:33684315-33684442	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
SLFN11	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535220973	chr17:33684000-33684001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534944764	chr17:33684001-33684002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190687824	chr17:33684006-33684007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571998150	chr17:33684033-33684034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7211677	chr17:33684035-33684036	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184176856	chr17:33684036-33684037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573511701	chr17:33684097-33684098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7212322	chr17:33684107-33684108	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs552833542	chr17:33684110-33684111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572880005	chr17:33684114-33684115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368883832	chr17:33684158-33684159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371807963	chr17:33684159-33684160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7216624	chr17:33684184-33684185	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs35291259	chr17:33684193-33684194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs398030713	chr17:33684195-33684196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs60376888	chr17:33684196-33684197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62079544	chr17:33684197-33684198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564711311	chr17:33684215-33684216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556985949	chr17:33684227-33684228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575185368	chr17:33684260-33684261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555433947	chr17:33684262-33684263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs137898106	chr17:33684325-33684326	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs537935785	chr17:33684335-33684336	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs563701952	chr17:33684400-33684401	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs529315029	chr17:33684417-33684418	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs187085669	chr17:33684418-33684419	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs372064467	chr17:33684441-33684442	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs142649240	chr17:33684463-33684464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191895203	chr17:33684507-33684508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565689634	chr17:33684532-33684533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537744343	chr17:33684553-33684554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551038747	chr17:33684568-33684569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567939968	chr17:33684612-33684613	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs535904088	chr17:33684653-33684654	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs552914115	chr17:33684677-33684678	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs534646260	chr17:33684699-33684700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370874584	chr17:33684705-33684706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538314672	chr17:33684794-33684795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558342568	chr17:33684838-33684839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201837167	chr17:33684842-33684843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575046160	chr17:33684862-33684863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543996209	chr17:33684867-33684868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112625740	chr17:33684945-33684946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561066783	chr17:33684955-33684956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182750635	chr17:33685027-33685028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542683369	chr17:33685055-33685056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559669731	chr17:33685068-33685069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28532779	chr17:33685099-33685100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187340748	chr17:33685219-33685220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73992746	chr17:33685305-33685306	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:112)

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
Recurrent pregnancy loss	19789632	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33673800-33689800	Weak transcription	Gastric	stomach
2	chr17:33673800-33699800	Weak transcription	Ovary	ovary
3	chr17:33674000-33686400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr17:33674000-33695600	Weak transcription	Colonic Mucosa	Colon
5	chr17:33674000-33695600	Weak transcription	Placenta	Placenta
6	chr17:33674000-33698600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr17:33674200-33686000	Weak transcription	Brain Hippocampus Middle	brain
8	chr17:33674200-33699800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr17:33674400-33693600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr17:33674600-33694600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr17:33675000-33686600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr17:33675000-33688400	Weak transcription	Colon Smooth Muscle	Colon
13	chr17:33675600-33684400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr17:33675800-33687800	Strong transcription	Dnd41	blood
15	chr17:33675800-33694000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr17:33675800-33699800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr17:33676000-33687600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr17:33676000-33689600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr17:33676000-33689600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr17:33676400-33684800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr17:33677600-33684800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr17:33677600-33691400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr17:33677600-33691400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr17:33677800-33684200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:33678200-33687800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr17:33678400-33700000	Weak transcription	Esophagus	oesophagus
27	chr17:33678600-33687400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:33678800-33684800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr17:33679800-33684400	Strong transcription	Adipose Nuclei	Adipose
30	chr17:33680000-33687600	Weak transcription	Thymus	Thymus
31	chr17:33680000-33689400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr17:33680000-33695600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr17:33680200-33685800	Weak transcription	Primary T cells from cord blood	blood
34	chr17:33680200-33687800	Weak transcription	Aorta	Aorta
35	chr17:33680400-33687400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr17:33681200-33684400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr17:33681200-33684600	Strong transcription	Fetal Thymus	thymus
38	chr17:33681400-33691000	Strong transcription	HUVEC	blood vessel
39	chr17:33681600-33684600	Strong transcription	Primary hematopoietic stem cells	blood
40	chr17:33681800-33686600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr17:33682000-33697600	Weak transcription	Osteobl	bone
42	chr17:33682200-33691600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr17:33682200-33694400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr17:33682400-33686400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr17:33682600-33685200	Strong transcription	NHDF-Ad	bronchial
46	chr17:33682600-33688400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr17:33682800-33684400	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr17:33682800-33685800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr17:33683000-33685800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr17:33683000-33686400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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