Variant report

Variant	esv3423670
Chromosome Location	chr17:16013050-16015815
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15963401..15966357-chr17:16012433..16014400,2	K562	blood:
2	chr17:16015557..16017498-chr17:16021823..16023792,2	MCF-7	breast:

Extended variants
information (count: 115 )
Associated
traits (count: 161 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80282244	chr17:16013052-16013053	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111902958	chr17:16013054-16013055	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372179586	chr17:16013055-16013056	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528057480	chr17:16013058-16013059	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143153496	chr17:16013067-16013068	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548234071	chr17:16013093-16013094	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs180890564	chr17:16013130-16013131	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537784836	chr17:16013173-16013174	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551306352	chr17:16013194-16013195	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570416798	chr17:16013207-16013208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570913087	chr17:16013221-16013222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566031751	chr17:16013237-16013238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540047966	chr17:16013241-16013242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553158471	chr17:16013260-16013261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566990706	chr17:16013264-16013265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535460903	chr17:16013321-16013322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534730468	chr17:16013325-16013326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555380989	chr17:16013336-16013337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536684960	chr17:16013361-16013362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375027233	chr17:16013406-16013407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575241465	chr17:16013450-16013451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187201073	chr17:16013479-16013480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558409418	chr17:16013489-16013490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141890321	chr17:16013505-16013506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556858232	chr17:16013526-16013527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534736843	chr17:16013585-16013586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576926002	chr17:16013631-16013632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546010225	chr17:16013632-16013633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559159875	chr17:16013641-16013642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150203269	chr17:16013644-16013645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541839648	chr17:16013647-16013648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561628463	chr17:16013662-16013663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530526631	chr17:16013691-16013692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551269525	chr17:16013694-16013695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571139688	chr17:16013696-16013697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76991955	chr17:16013697-16013698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547200877	chr17:16013704-16013705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568622981	chr17:16013715-16013716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190471865	chr17:16013723-16013724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139018044	chr17:16013791-16013792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568429787	chr17:16013792-16013793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371996829	chr17:16013799-16013800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537864653	chr17:16013806-16013807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556957824	chr17:16013826-16013827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577092319	chr17:16013827-16013828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61352879	chr17:16013843-16013844	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs553171617	chr17:16013868-16013869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140150945	chr17:16013910-16013911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73981456	chr17:16013917-16013918	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs561790928	chr17:16013945-16013946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:161)

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
Multiple myeloma	17550852	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
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22102821	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	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
early-passage human iPS cells	21368824	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

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15995400-16021400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:15999400-16052400	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr17:15999800-16047600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr17:16000800-16018000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr17:16001600-16017600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr17:16001600-16018000	Weak transcription	HMEC	breast
7	chr17:16001600-16019200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr17:16001800-16017400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr17:16001800-16017800	Weak transcription	Fetal Heart	heart
10	chr17:16001800-16018200	Weak transcription	Psoas Muscle	Psoas
11	chr17:16002000-16017600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr17:16002000-16019400	Weak transcription	Small Intestine	intestine
13	chr17:16004000-16017600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr17:16005000-16017400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr17:16005000-16017600	Weak transcription	Esophagus	oesophagus
16	chr17:16005000-16017800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr17:16005000-16017800	Weak transcription	Fetal Brain Male	brain
18	chr17:16005000-16017800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr17:16005000-16018000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr17:16005000-16018000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr17:16005000-16019200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr17:16005000-16038600	Weak transcription	Stomach Mucosa	stomach
23	chr17:16005200-16015800	Weak transcription	Brain Germinal Matrix	brain
24	chr17:16005200-16016600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr17:16005200-16017600	Weak transcription	Gastric	stomach
26	chr17:16005200-16017800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr17:16005200-16017800	Weak transcription	Spleen	Spleen
28	chr17:16006600-16064200	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr17:16008000-16016600	Weak transcription	Hela-S3	cervix
30	chr17:16008400-16017600	Weak transcription	Colonic Mucosa	Colon
31	chr17:16008400-16018000	Weak transcription	NHLF	lung
32	chr17:16008800-16015200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr17:16009000-16018000	Weak transcription	Fetal Brain Female	brain
34	chr17:16009600-16017800	Weak transcription	Brain Hippocampus Middle	brain
35	chr17:16009800-16017400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr17:16010000-16017000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr17:16010000-16017600	Weak transcription	Pancreas	Pancrea
38	chr17:16010000-16017800	Weak transcription	Brain Anterior Caudate	brain
39	chr17:16010000-16018000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr17:16010200-16017400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr17:16010400-16015000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr17:16010600-16013200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr17:16010600-16017800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr17:16010800-16017600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr17:16011000-16014600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr17:16011000-16014600	Weak transcription	Ovary	ovary
47	chr17:16011000-16016000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr17:16011000-16017400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr17:16011000-16017600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr17:16011000-16017600	Weak transcription	Lung	lung

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