Variant report

Variant	nsv88475
Chromosome Location	chr15:59649087-59649090
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	chr15:59642784..59644444-chr15:59647151..59649563,2	MCF-7	breast:
2	chr15:59641495..59643626-chr15:59648799..59650877,2	MCF-7	breast:

Extended variants
information (count: 1 )
Associated
traits (count: 60 )

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	rs113374793	chr15:59649090-59649091	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD
Gastrointestinal stromal cancer	20877625	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59623200-59662800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr15:59624600-59650000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr15:59634800-59662600	Weak transcription	Colonic Mucosa	Colon
4	chr15:59636400-59652800	Weak transcription	HepG2	liver
5	chr15:59637800-59662000	Weak transcription	Right Ventricle	heart
6	chr15:59638600-59653000	Weak transcription	Esophagus	oesophagus
7	chr15:59638600-59654600	Weak transcription	Liver	Liver
8	chr15:59642600-59659400	Weak transcription	Ovary	ovary
9	chr15:59642800-59651600	Weak transcription	Pancreas	Pancrea
10	chr15:59642800-59653200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr15:59642800-59658600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr15:59643000-59653000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:59643000-59653000	Weak transcription	HSMMtube	muscle
14	chr15:59643000-59653200	Weak transcription	NHLF	lung
15	chr15:59643000-59656200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr15:59643000-59659400	Weak transcription	Fetal Intestine Small	intestine
17	chr15:59643200-59650000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr15:59643200-59650000	Weak transcription	HSMM	muscle
19	chr15:59643600-59658800	Weak transcription	Fetal Intestine Large	intestine
20	chr15:59644000-59653000	Weak transcription	NHDF-Ad	bronchial
21	chr15:59644400-59653000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr15:59644600-59649800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr15:59644800-59654400	Weak transcription	Osteobl	bone
24	chr15:59644800-59659400	Weak transcription	Right Atrium	heart
25	chr15:59645000-59652800	Weak transcription	Brain Angular Gyrus	brain
26	chr15:59645200-59649400	Weak transcription	Colon Smooth Muscle	Colon
27	chr15:59645200-59649600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr15:59645200-59649800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr15:59645200-59656400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr15:59645200-59659200	Weak transcription	Fetal Heart	heart
31	chr15:59645200-59662000	Weak transcription	Psoas Muscle	Psoas
32	chr15:59645400-59659200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr15:59645400-59659400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr15:59646600-59652600	Weak transcription	NH-A	brain
35	chr15:59646600-59662200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr15:59646800-59650000	Weak transcription	Aorta	Aorta
37	chr15:59646800-59653000	Weak transcription	Left Ventricle	heart
38	chr15:59646800-59656400	Weak transcription	HUVEC	blood vessel
39	chr15:59646800-59662600	Weak transcription	Gastric	stomach
40	chr15:59647000-59652600	Weak transcription	Spleen	Spleen
41	chr15:59647000-59653000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:59647000-59662400	Weak transcription	Adipose Nuclei	Adipose
43	chr15:59647200-59650000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr15:59647200-59650400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr15:59647400-59651800	Weak transcription	Lung	lung
46	chr15:59647600-59650000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr15:59647600-59650600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr15:59647600-59651200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr15:59647600-59651800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr15:59647800-59650000	Weak transcription	HMEC	breast

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