Variant report

Variant	esv3418340
Chromosome Location	chr15:56720802-56720972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:56536734..56539507-chr15:56718886..56721172,2	MCF-7	breast:
2	chr15:56537725..56539025-chr15:56720287..56722326,16	MCF-7	breast:
3	chr15:56538080..56538849-chr15:56720711..56721356,4	MCF-7	breast:
4	chr15:56537986..56539019-chr15:56720847..56721772,4	K562	blood:
5	chr15:56541012..56541917-chr15:56720826..56721341,2	K562	blood:
6	chr15:56587524..56588313-chr15:56720286..56721333,4	MCF-7	breast:
7	chr15:56540966..56543133-chr15:56718827..56720916,2	MCF-7	breast:
8	chr15:56540398..56542023-chr15:56720800..56721752,16	MCF-7	breast:
9	chr15:56066629..56067204-chr15:56720771..56721659,2	K562	blood:
10	chr15:56541018..56541999-chr15:56720733..56721455,3	MCF-7	breast:

No data

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	rs540733270	chr15:56720836-56720837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs28622888	chr15:56720837-56720838	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56665200-56733400	Weak transcription	Fetal Kidney	kidney
2	chr15:56677800-56726200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:56686000-56734600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr15:56690000-56737800	Weak transcription	Stomach Mucosa	stomach
5	chr15:56703600-56730800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr15:56704000-56734600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr15:56705400-56734800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:56711600-56724000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr15:56715400-56723000	Weak transcription	Fetal Stomach	stomach
10	chr15:56716000-56756600	Weak transcription	HSMM	muscle
11	chr15:56716600-56725600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr15:56716800-56734600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr15:56717600-56727800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:56717800-56724400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:56717800-56724800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr15:56718000-56734600	Weak transcription	Brain Anterior Caudate	brain
17	chr15:56718400-56734600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr15:56718600-56722600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:56718600-56723000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:56718600-56723000	Weak transcription	Fetal Intestine Small	intestine
21	chr15:56718600-56724000	Weak transcription	Gastric	stomach
22	chr15:56718600-56734600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr15:56718600-56734600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr15:56718600-56734600	Weak transcription	Adipose Nuclei	Adipose
25	chr15:56718600-56734800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr15:56718600-56736600	Weak transcription	Brain Hippocampus Middle	brain
27	chr15:56718600-56756200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr15:56718800-56723200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:56719200-56722400	Weak transcription	Fetal Thymus	thymus
30	chr15:56719200-56742400	Weak transcription	Fetal Intestine Large	intestine
31	chr15:56719400-56722200	Weak transcription	Fetal Lung	lung
32	chr15:56719400-56722400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr15:56719400-56722400	Weak transcription	Thymus	Thymus
34	chr15:56719400-56725400	Weak transcription	Ovary	ovary
35	chr15:56719400-56734600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr15:56719400-56736800	Weak transcription	Fetal Muscle Leg	muscle
37	chr15:56720400-56721400	Strong transcription	Dnd41	blood
38	chr15:56720800-56740600	Weak transcription	GM12878-XiMat	blood

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