Variant report

Variant	esv2307611
Chromosome Location	chr15:82427605-82427606
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	chr15:82414285..82416905-chr15:82427486..82429493,2	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 74 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2455717	chr15:82427605-82427606	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs200746687	chr15:82427606-82427607	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Congenital diaphragmatic hernia	20921022	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
renal disease	17924346	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21509527	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82399000-82452200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:82405600-82428000	Weak transcription	Fetal Muscle Leg	muscle
3	chr15:82406200-82430200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr15:82408000-82443600	Weak transcription	Aorta	Aorta
5	chr15:82408400-82431800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:82408800-82432400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr15:82411200-82428400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr15:82414400-82429600	Weak transcription	Brain Hippocampus Middle	brain
9	chr15:82415400-82428200	Weak transcription	Fetal Heart	heart
10	chr15:82415600-82430200	Weak transcription	Stomach Mucosa	stomach
11	chr15:82415600-82431800	Weak transcription	HUVEC	blood vessel
12	chr15:82416200-82443400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr15:82416200-82452400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr15:82416400-82430400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr15:82416400-82431400	Strong transcription	Primary T cells from cord blood	blood
16	chr15:82416400-82454000	Weak transcription	Colonic Mucosa	Colon
17	chr15:82416600-82443800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr15:82419000-82428000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr15:82419000-82431200	Strong transcription	Primary B cells from peripheral blood	blood
20	chr15:82419200-82470600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:82419600-82428200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr15:82420000-82457000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr15:82420200-82431200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr15:82420200-82431200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr15:82420200-82431200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr15:82420200-82431400	Strong transcription	Dnd41	blood
27	chr15:82420200-82432000	Weak transcription	Brain Anterior Caudate	brain
28	chr15:82420400-82458400	Weak transcription	HepG2	liver
29	chr15:82420600-82436200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr15:82420800-82428000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr15:82420800-82431400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr15:82420800-82432000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr15:82421200-82432200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr15:82421200-82443800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr15:82421400-82428600	Weak transcription	K562	blood
36	chr15:82421400-82431200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr15:82421400-82439000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr15:82421600-82430400	Weak transcription	Small Intestine	intestine
39	chr15:82422000-82428600	Strong transcription	Fetal Thymus	thymus
40	chr15:82422400-82432000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr15:82422600-82430000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr15:82422600-82432000	Weak transcription	Brain Substantia Nigra	brain
43	chr15:82422800-82428200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr15:82422800-82430400	Weak transcription	Fetal Kidney	kidney
45	chr15:82423000-82429600	Weak transcription	Colon Smooth Muscle	Colon
46	chr15:82423000-82431200	Strong transcription	Fetal Intestine Large	intestine
47	chr15:82423000-82432400	Weak transcription	Ovary	ovary
48	chr15:82423000-82443600	Weak transcription	Right Ventricle	heart
49	chr15:82423000-82443800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr15:82423200-82428000	Weak transcription	Fetal Lung	lung

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