Variant report

Variant	esv17719
Chromosome Location	chr15:45982592-45983057
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62008315	chr15:45982595-45982596	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577991595	chr15:45982602-45982603	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs62008316	chr15:45982606-45982607	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs551831090	chr15:45982633-45982634	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191132321	chr15:45982644-45982645	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117136417	chr15:45982667-45982668	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114674846	chr15:45982740-45982741	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138784843	chr15:45982781-45982782	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11070463	chr15:45982785-45982786	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs62008317	chr15:45982807-45982808	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs113935900	chr15:45982862-45982863	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369312452	chr15:45982863-45982864	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10636126	chr15:45982865-45982866	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs8038076	chr15:45982881-45982882	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs549746446	chr15:45982886-45982887	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569505191	chr15:45982935-45982936	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs62008318	chr15:45982965-45982966	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs62008319	chr15:45983004-45983005	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs568792969	chr15:45983005-45983006	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577185468	chr15:45983015-45983016	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148964661	chr15:45983032-45983033	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75106425	chr15:45983049-45983050	Strong transcription Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45950600-45988400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr15:45950800-45986000	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr15:45953000-45984000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:45953400-45986200	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr15:45957400-45985800	Weak transcription	HSMMtube	muscle
6	chr15:45958400-45986400	Weak transcription	Fetal Muscle Leg	muscle
7	chr15:45959600-45986200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:45960000-45986000	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr15:45960200-45987800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr15:45960400-45985200	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr15:45960400-45985800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr15:45960400-45986200	Strong transcription	Duodenum Mucosa	Duodenum
13	chr15:45960400-45987000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:45960400-45988200	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr15:45960600-45985800	Strong transcription	Primary T cells from cord blood	blood
16	chr15:45960600-45986000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr15:45960600-45986000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:45960600-45986600	Strong transcription	Primary B cells from cord blood	blood
19	chr15:45960600-45987200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr15:45960800-45985600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr15:45960800-45987000	Strong transcription	Liver	Liver
22	chr15:45961800-45987000	Strong transcription	Stomach Smooth Muscle	stomach
23	chr15:45963200-45984400	Weak transcription	Fetal Kidney	kidney
24	chr15:45964800-45986000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:45968800-45985000	Weak transcription	NHLF	lung
26	chr15:45968800-45989600	Weak transcription	Placenta	Placenta
27	chr15:45970400-45988200	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr15:45971000-45989000	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr15:45971600-45986400	Strong transcription	Fetal Intestine Small	intestine
30	chr15:45972000-45986000	Strong transcription	Spleen	Spleen
31	chr15:45972200-45985800	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr15:45972400-45984200	Strong transcription	Left Ventricle	heart
33	chr15:45972600-45986000	Strong transcription	Esophagus	oesophagus
34	chr15:45972600-45986400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr15:45973000-45985800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr15:45973000-45986000	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr15:45973200-45985800	Strong transcription	Adipose Nuclei	Adipose
38	chr15:45973200-45986200	Strong transcription	Lung	lung
39	chr15:45974800-45985200	Strong transcription	Fetal Intestine Large	intestine
40	chr15:45974800-45985400	Strong transcription	HMEC	breast
41	chr15:45975400-45989400	Weak transcription	HepG2	liver
42	chr15:45975800-45984600	Weak transcription	Osteobl	bone
43	chr15:45976600-45985800	Strong transcription	Thymus	Thymus
44	chr15:45976800-45985400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr15:45976800-45986000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:45977000-45986400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr15:45977200-45985000	Weak transcription	Hela-S3	cervix
48	chr15:45977400-45985800	Strong transcription	Gastric	stomach
49	chr15:45977600-45982800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr15:45977600-45986800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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