Variant report

Variant	esv3315166
Chromosome Location	chr17:17219093-17219764
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 160 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372842709	chr17:17219100-17219101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11870836	chr17:17219134-17219135	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs151016181	chr17:17219154-17219155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533293410	chr17:17219216-17219217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34025151	chr17:17219226-17219227	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs188753038	chr17:17219231-17219232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150090855	chr17:17219259-17219260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138419388	chr17:17219262-17219263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375195900	chr17:17219270-17219271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192984047	chr17:17219274-17219275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184875678	chr17:17219278-17219279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374524336	chr17:17219343-17219344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145386590	chr17:17219344-17219345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138401266	chr17:17219349-17219350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571033622	chr17:17219359-17219360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539451101	chr17:17219364-17219365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189708130	chr17:17219365-17219366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113686367	chr17:17219369-17219370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566446556	chr17:17219383-17219384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74540721	chr17:17219407-17219408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180837220	chr17:17219414-17219415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547003424	chr17:17219418-17219419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566739025	chr17:17219431-17219432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532336271	chr17:17219454-17219455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555461566	chr17:17219481-17219482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575442728	chr17:17219520-17219521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73302340	chr17:17219603-17219604	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs142983510	chr17:17219618-17219619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577876591	chr17:17219631-17219632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540109754	chr17:17219658-17219659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552955401	chr17:17219659-17219660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34676851	chr17:17219681-17219682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs36146846	chr17:17219683-17219684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377665464	chr17:17219684-17219685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561955587	chr17:17219689-17219690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139141824	chr17:17219695-17219696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71152866	chr17:17219705-17219706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114530568	chr17:17219707-17219708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552470660	chr17:17219708-17219709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541963411	chr17:17219746-17219747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:160)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric cancer	18160780	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22543975	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17207400-17235400	Weak transcription	Lung	lung
2	chr17:17207600-17246400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr17:17207800-17226400	Weak transcription	Brain Angular Gyrus	brain
4	chr17:17207800-17228000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr17:17207800-17228000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr17:17207800-17228400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr17:17207800-17229600	Weak transcription	Adipose Nuclei	Adipose
8	chr17:17207800-17243400	Weak transcription	Colon Smooth Muscle	Colon
9	chr17:17208000-17226000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr17:17208000-17226200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr17:17208200-17225400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr17:17208200-17225400	Weak transcription	Brain Anterior Caudate	brain
13	chr17:17208200-17226400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr17:17208200-17228200	Weak transcription	Brain Hippocampus Middle	brain
15	chr17:17208400-17225400	Weak transcription	Brain Germinal Matrix	brain
16	chr17:17208600-17255400	Weak transcription	Brain Substantia Nigra	brain
17	chr17:17208800-17236000	Weak transcription	Right Ventricle	heart
18	chr17:17209000-17226000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr17:17209000-17227600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr17:17209200-17224000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr17:17209200-17224600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr17:17209800-17226400	Weak transcription	Fetal Intestine Small	intestine
23	chr17:17210600-17233400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:17212400-17229000	Weak transcription	Fetal Brain Male	brain
25	chr17:17213000-17248000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr17:17215400-17229000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:17215600-17225800	Weak transcription	Fetal Brain Female	brain
28	chr17:17215600-17226600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr17:17215600-17226600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr17:17215600-17228000	Weak transcription	Ovary	ovary
31	chr17:17215600-17231400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr17:17215600-17252800	Weak transcription	Fetal Lung	lung
33	chr17:17215800-17228000	Weak transcription	Dnd41	blood
34	chr17:17216600-17240800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr17:17217000-17229600	Weak transcription	Gastric	stomach
36	chr17:17217000-17231800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr17:17217200-17220800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr17:17217200-17224200	Weak transcription	Spleen	Spleen
39	chr17:17217200-17225400	Weak transcription	Fetal Muscle Leg	muscle
40	chr17:17217200-17253800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr17:17217400-17223800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr17:17218200-17224600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr17:17218400-17220600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr17:17218400-17228000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr17:17218600-17239800	Weak transcription	Fetal Thymus	thymus
46	chr17:17219000-17220600	Weak transcription	Fetal Stomach	stomach
47	chr17:17219000-17221800	Weak transcription	Hela-S3	cervix
48	chr17:17219000-17223600	Weak transcription	Thymus	Thymus
49	chr17:17219000-17225800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr17:17219000-17226000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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