Variant report

Variant	esv3336960
Chromosome Location	chr17:18139629-18139830
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:18136077..18142771-chr17:18143654..18157956,22	MCF-7	breast:
2	chr17:18139407..18141730-chr17:18142656..18144788,2	K562	blood:
3	chr17:18138823..18141039-chr17:18218928..18220976,2	MCF-7	breast:
4	chr17:18130743..18132299-chr17:18139265..18141956,2	K562	blood:
5	chr17:18138107..18140775-chr17:18159304..18163792,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177731	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 160 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547279293	chr17:18139655-18139656	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs566973761	chr17:18139675-18139676	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs536023478	chr17:18139702-18139703	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555202923	chr17:18139712-18139713	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs533682507	chr17:18139739-18139740	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs568923243	chr17:18139762-18139763	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs7215678	chr17:18139793-18139794	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs370981838	chr17:18139797-18139798	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs561758730	chr17:18139798-18139799	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs557342686	chr17:18139820-18139821	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs577185721	chr17:18139821-18139822	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	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
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
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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Sezary syndrome	18413736	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18129600-18148400	Weak transcription	Small Intestine	intestine
2	chr17:18130000-18145400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr17:18130000-18148200	Weak transcription	Fetal Kidney	kidney
4	chr17:18130000-18148200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr17:18130000-18149200	Weak transcription	Psoas Muscle	Psoas
6	chr17:18130200-18145600	Weak transcription	A549	lung
7	chr17:18130200-18147000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr17:18130200-18147000	Weak transcription	Liver	Liver
9	chr17:18130200-18150800	Weak transcription	Right Atrium	heart
10	chr17:18130400-18142400	Weak transcription	Fetal Heart	heart
11	chr17:18130400-18146200	Weak transcription	NHDF-Ad	bronchial
12	chr17:18130400-18148200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr17:18130600-18148200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr17:18131200-18148400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr17:18134600-18149600	Strong transcription	Fetal Intestine Small	intestine
16	chr17:18134600-18150800	Weak transcription	Fetal Brain Male	brain
17	chr17:18134600-18150800	Strong transcription	Fetal Stomach	stomach
18	chr17:18134800-18142000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr17:18135000-18149400	Strong transcription	Fetal Muscle Trunk	muscle
20	chr17:18135200-18141600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr17:18135200-18149400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr17:18135200-18149400	Strong transcription	Fetal Intestine Large	intestine
23	chr17:18135200-18149600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr17:18135200-18150000	Strong transcription	Fetal Muscle Leg	muscle
25	chr17:18135200-18150600	Strong transcription	Brain Germinal Matrix	brain
26	chr17:18135200-18160000	Strong transcription	Fetal Brain Female	brain
27	chr17:18135400-18140400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr17:18135400-18142600	Strong transcription	Dnd41	blood
29	chr17:18135400-18149800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
30	chr17:18135400-18150000	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr17:18135400-18150000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr17:18135400-18159600	Strong transcription	Primary T cells from cord blood	blood
33	chr17:18135400-18160200	Strong transcription	Thymus	Thymus
34	chr17:18135600-18141800	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr17:18135600-18142000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr17:18135600-18142600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr17:18135600-18149600	Strong transcription	Placenta	Placenta
38	chr17:18135600-18149800	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr17:18135600-18149800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr17:18135600-18150600	Strong transcription	Adipose Nuclei	Adipose
41	chr17:18135600-18159000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr17:18135600-18159400	Strong transcription	Fetal Lung	lung
43	chr17:18135600-18160000	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr17:18135800-18142000	Strong transcription	Right Ventricle	heart
45	chr17:18135800-18149600	Strong transcription	Gastric	stomach
46	chr17:18135800-18150000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:18135800-18150600	Strong transcription	Stomach Smooth Muscle	stomach
48	chr17:18135800-18160400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr17:18136000-18141600	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr17:18136000-18142000	Strong transcription	NHLF	lung

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