Variant report

Variant	esv3429184
Chromosome Location	chr17:33742467-33742826
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367841301	chr17:33742481-33742482	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs201686386	chr17:33742501-33742502	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs565535081	chr17:33742538-33742539	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs145579421	chr17:33742585-33742586	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs8080889	chr17:33742619-33742620	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs560848337	chr17:33742622-33742623	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs181604673	chr17:33742656-33742657	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs546685197	chr17:33742721-33742722	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs566695005	chr17:33742728-33742729	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs538779539	chr17:33742802-33742803	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	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
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33731400-33754800	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr17:33731800-33754600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:33731800-33755200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr17:33732600-33750400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr17:33732800-33745600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr17:33733000-33758200	Weak transcription	NHEK	skin
7	chr17:33733800-33752200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr17:33733800-33759000	Weak transcription	Right Ventricle	heart
9	chr17:33734800-33756000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr17:33734800-33756800	Weak transcription	Spleen	Spleen
11	chr17:33734800-33758200	Weak transcription	HMEC	breast
12	chr17:33734800-33758400	Weak transcription	Esophagus	oesophagus
13	chr17:33735600-33755600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr17:33735800-33754000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr17:33735800-33754800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr17:33736400-33748000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr17:33736400-33755400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr17:33737200-33748800	Weak transcription	Lung	lung
19	chr17:33737200-33752000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr17:33737400-33750800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr17:33737600-33743000	Weak transcription	Primary B cells from cord blood	blood
22	chr17:33737600-33745200	Weak transcription	Osteobl	bone
23	chr17:33737600-33745800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr17:33737600-33746600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr17:33737600-33748600	Weak transcription	Fetal Stomach	stomach
26	chr17:33737600-33748800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr17:33737600-33758000	Weak transcription	HSMMtube	muscle
28	chr17:33737800-33743200	Weak transcription	Aorta	Aorta
29	chr17:33737800-33745600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr17:33737800-33745600	Weak transcription	Fetal Thymus	thymus
31	chr17:33737800-33745800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:33737800-33745800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:33737800-33749400	Weak transcription	Fetal Intestine Large	intestine
34	chr17:33737800-33755400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr17:33737800-33756400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr17:33737800-33756600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr17:33737800-33758400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr17:33737800-33759000	Weak transcription	Gastric	stomach
39	chr17:33738000-33745800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr17:33738000-33758400	Weak transcription	Colon Smooth Muscle	Colon
41	chr17:33738000-33758400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr17:33738600-33745200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr17:33738600-33755200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr17:33738600-33758200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr17:33738800-33745200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr17:33738800-33745400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr17:33738800-33745800	Weak transcription	Placenta	Placenta
48	chr17:33738800-33755400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr17:33738800-33758400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr17:33739000-33745600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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