Variant report

Variant	esv3522712
Chromosome Location	chr15:87299252-87299818
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:86775206..86776046-chr15:87299657..87300527,2	MCF-7	breast:
2	chr15:87167915..87168430-chr15:87299358..87300183,2	MCF-7	breast:
3	chr15:87299754..87300537-chr5:74333585..74334466,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11073667	chr15:87299277-87299278	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150253682	chr15:87299360-87299361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139208155	chr15:87299362-87299363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569550787	chr15:87299372-87299373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141879564	chr15:87299392-87299393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569898159	chr15:87299393-87299394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185659435	chr15:87299394-87299395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74025457	chr15:87299399-87299400	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs567164795	chr15:87299404-87299405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573427859	chr15:87299414-87299415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534779022	chr15:87299430-87299431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540778344	chr15:87299449-87299450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10852079	chr15:87299450-87299451	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs571674385	chr15:87299451-87299452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577585692	chr15:87299458-87299459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12899177	chr15:87299464-87299465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189649317	chr15:87299467-87299468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111539291	chr15:87299476-87299477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542996094	chr15:87299487-87299488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11073668	chr15:87299501-87299502	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs186132453	chr15:87299542-87299543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188545950	chr15:87299610-87299611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181485852	chr15:87299613-87299614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147101304	chr15:87299649-87299650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78479091	chr15:87299665-87299666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563139567	chr15:87299692-87299693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7498034	chr15:87299737-87299738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375740970	chr15:87299746-87299747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548901222	chr15:87299776-87299777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186473470	chr15:87299813-87299814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190963239	chr15:87299818-87299819	Weak transcription 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
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
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	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
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21364760	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Spondylocostal dysostosis	21085971	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:87294200-87302000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr15:87298600-87303600	Weak transcription	Fetal Lung	lung
3	chr15:87299200-87299800	Enhancers	Fetal Muscle Leg	muscle
4	chr15:87299800-87300600	Enhancers	Psoas Muscle	Psoas

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