Variant report

Variant	esv3350860
Chromosome Location	chr15:79144102-79144521
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	chr15:79135320..79138414-chr15:79142742..79145472,3	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543256021	chr15:79144141-79144142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563545225	chr15:79144146-79144147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6495343	chr15:79144163-79144164	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs35508014	chr15:79144172-79144173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201272657	chr15:79144186-79144187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377280812	chr15:79144227-79144228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552481395	chr15:79144232-79144233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566060678	chr15:79144256-79144257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528519113	chr15:79144264-79144265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143671773	chr15:79144276-79144277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147192273	chr15:79144291-79144292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184404774	chr15:79144296-79144297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540083398	chr15:79144323-79144324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557267729	chr15:79144334-79144335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11366941	chr15:79144362-79144363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112077357	chr15:79144365-79144366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs8036536	chr15:79144388-79144389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528996911	chr15:79144465-79144466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189062944	chr15:79144471-79144472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373810378	chr15:79144493-79144494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7175271	chr15:79144509-79144510	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs116528079	chr15:79144511-79144512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540635089	chr15:79144519-79144520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Intellectual disability	22102821	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	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
Breast cancer	17133270	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	21364760	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79134000-79147400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr15:79143000-79144400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr15:79143000-79144600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:79143800-79144200	Enhancers	HepG2	liver
5	chr15:79143800-79145800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr15:79143800-79146800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:79143800-79147000	Weak transcription	Brain Anterior Caudate	brain
8	chr15:79143800-79152200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr15:79143800-79152200	Weak transcription	Brain Substantia Nigra	brain
10	chr15:79143800-79152200	Weak transcription	Fetal Lung	lung
11	chr15:79144000-79152000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr15:79144200-79147000	Weak transcription	HepG2	liver

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