Variant report

Variant	esv2546185
Chromosome Location	chr17:15870609-15870612
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	chr17:15869541..15871982-chr17:15871991..15874515,2	K562	blood:

Extended variants
information (count: 1 )
Associated
traits (count: 126 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10556115	chr17:15870609-15870610	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

Disease	PMID	Source
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	19435819	CNVD
Non-small cell lung cancer	19010865	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Hepatocellular carcinoma	18803288	CNVD
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
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
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	16616336	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Autism	17322880	CNVD
Hereditary neuropathy with liability to pressure palsy	19521722	CNVD
Schizophrenia	19571808	CNVD
Schizophrenia	19955444	CNVD
Charcot-marie-tooth disease	18787571	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Peripheral neuropathy	21193943	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	20844748	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15866400-15871800	Enhancers	NH-A	brain
2	chr17:15866600-15871200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr17:15867400-15878000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr17:15868400-15871400	Enhancers	Hela-S3	cervix
5	chr17:15868400-15871400	Enhancers	NHDF-Ad	bronchial
6	chr17:15868400-15871600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr17:15868600-15870800	Enhancers	Esophagus	oesophagus
8	chr17:15868600-15871200	Enhancers	Fetal Thymus	thymus
9	chr17:15868600-15871400	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr17:15868600-15871600	Enhancers	Dnd41	blood
11	chr17:15868600-15871800	Enhancers	Primary hematopoietic stem cells	blood
12	chr17:15868600-15872000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:15868600-15872000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr17:15868600-15872200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr17:15868600-15872400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr17:15868600-15872400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr17:15868600-15872400	Enhancers	K562	blood
18	chr17:15868800-15870800	Enhancers	Placenta	Placenta
19	chr17:15868800-15871400	Enhancers	Fetal Muscle Leg	muscle
20	chr17:15868800-15880000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr17:15869000-15870800	Enhancers	Fetal Intestine Large	intestine
22	chr17:15869000-15875800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr17:15869200-15871600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr17:15869400-15871200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr17:15869400-15871800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr17:15869600-15870800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:15869600-15870800	Enhancers	Primary B cells from cord blood	blood
28	chr17:15869600-15870800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr17:15869600-15871000	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr17:15869600-15871000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr17:15869600-15871000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr17:15869600-15871400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr17:15869800-15870800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr17:15869800-15870800	Enhancers	Brain Hippocampus Middle	brain
35	chr17:15869800-15870800	Enhancers	Lung	lung
36	chr17:15869800-15871000	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr17:15869800-15871000	Enhancers	Fetal Intestine Small	intestine
38	chr17:15869800-15871200	Enhancers	Spleen	Spleen
39	chr17:15869800-15872200	Enhancers	Liver	Liver
40	chr17:15870000-15871200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr17:15870200-15870800	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr17:15870200-15871000	Genic enhancers	NHEK	skin
43	chr17:15870200-15871200	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr17:15870200-15871200	Enhancers	Primary T cells from cord blood	blood
45	chr17:15870200-15871200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr17:15870200-15871200	Enhancers	HUVEC	blood vessel
47	chr17:15870200-15871400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr17:15870200-15871600	Enhancers	Thymus	Thymus
49	chr17:15870200-15871800	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr17:15870200-15872600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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