Variant report

Variant	esv2213619
Chromosome Location	chr15:54540551-54541009
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	chr15:54540510..54543369-chr15:54545272..54547110,2	K562	blood:
2	chr15:54539853..54542603-chr15:54543505..54545190,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 61 )

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	rs12901994	chr15:54540557-54540558	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs12902903	chr15:54540592-54540593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs374874541	chr15:54540651-54540652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117378697	chr15:54540677-54540678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112644153	chr15:54540698-54540699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543048975	chr15:54540721-54540722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs59824714	chr15:54540724-54540725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs531911899	chr15:54540730-54540731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183016082	chr15:54540736-54540737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59938768	chr15:54540737-54540738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs142375884	chr15:54540744-54540745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527892541	chr15:54540761-54540762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547668831	chr15:54540767-54540768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200885161	chr15:54540779-54540780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs202023341	chr15:54540780-54540781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56974179	chr15:54540782-54540783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566599030	chr15:54540804-54540805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535182665	chr15:54540826-54540827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575493444	chr15:54540833-54540834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190062678	chr15:54540842-54540843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28756083	chr15:54540879-54540880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs376029939	chr15:54540890-54540891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140223378	chr15:54540999-54541000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	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
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54519000-54554400	Weak transcription	Aorta	Aorta
2	chr15:54519400-54549600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr15:54531400-54544800	Weak transcription	Fetal Lung	lung

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