Variant report

Variant	esv1753322
Chromosome Location	chr15:55931185-55931189
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	chr15:55808580..55811274-chr15:55928806..55931409,2	MCF-7	breast:

Extended variants
information (count: 2 )
Associated
traits (count: 59 )

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	rs398027391	chr15:55931186-55931187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs398070667	chr15:55931189-55931190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55902200-55942200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr15:55908600-55945000	Weak transcription	Left Ventricle	heart
3	chr15:55908800-55938800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:55911800-55977000	Weak transcription	Fetal Intestine Small	intestine
5	chr15:55912400-55944000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:55916000-55938200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr15:55918600-55931200	Weak transcription	Ovary	ovary
8	chr15:55920600-55931600	Weak transcription	Lung	lung
9	chr15:55920600-55933600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:55920600-55940000	Weak transcription	Psoas Muscle	Psoas
11	chr15:55920600-55953400	Weak transcription	HUVEC	blood vessel
12	chr15:55920800-55935200	Weak transcription	HSMMtube	muscle
13	chr15:55920800-55944600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr15:55920800-55987600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:55921000-55936200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:55921200-55941400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:55924000-55931800	Weak transcription	Brain Substantia Nigra	brain
18	chr15:55924400-55944800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:55924600-55934600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr15:55924800-55934600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr15:55927600-55931800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr15:55927600-55932800	Strong transcription	Hela-S3	cervix
23	chr15:55928600-55932800	Strong transcription	Stomach Smooth Muscle	stomach
24	chr15:55928600-55933400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:55928800-55932800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr15:55929000-55931200	Weak transcription	Fetal Muscle Leg	muscle
27	chr15:55929200-55932000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr15:55929400-55932800	Strong transcription	Placenta Amnion	Placenta Amnion
29	chr15:55929600-55931200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr15:55929600-55931200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr15:55929600-55931200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr15:55929600-55931200	Weak transcription	Fetal Stomach	stomach
33	chr15:55929600-55933800	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr15:55929800-55931800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr15:55929800-55932800	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr15:55930200-55932400	Strong transcription	Placenta	Placenta
37	chr15:55930200-55933400	Strong transcription	Fetal Intestine Large	intestine
38	chr15:55930200-55933400	Strong transcription	HepG2	liver
39	chr15:55930400-55932000	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr15:55930400-55933000	Weak transcription	Right Ventricle	heart
41	chr15:55930600-55932800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:55930800-55932600	Strong transcription	Fetal Lung	lung
43	chr15:55930800-55932800	Strong transcription	A549	lung
44	chr15:55931000-55932600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr15:55931000-55932600	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr15:55931000-55933400	Strong transcription	Fetal Kidney	kidney

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