Variant report

Variant	esv12090
Chromosome Location	chr15:54532412-54533030
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545190904	chr15:54532426-54532427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564928722	chr15:54532480-54532481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs16974352	chr15:54532503-54532504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs181213600	chr15:54532517-54532518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116021529	chr15:54532555-54532556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28550623	chr15:54532573-54532574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs4144949	chr15:54532592-54532593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs184918452	chr15:54532609-54532610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28362165	chr15:54532622-54532623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs146111586	chr15:54532657-54532658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527417381	chr15:54532671-54532672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528182987	chr15:54532675-54532676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554510135	chr15:54532704-54532705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs16974354	chr15:54532737-54532738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs536252908	chr15:54532758-54532759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571058720	chr15:54532768-54532769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4144948	chr15:54532795-54532796	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs17818278	chr15:54532802-54532803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs140079578	chr15:54532803-54532804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143653873	chr15:54532817-54532818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150835474	chr15:54532824-54532825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554658148	chr15:54532829-54532830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574553872	chr15:54532866-54532867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76995231	chr15:54532872-54532873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139252500	chr15:54532873-54532874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73411926	chr15:54532891-54532892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs546167006	chr15:54532942-54532943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189771711	chr15:54532955-54532956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs16974357	chr15:54532985-54532986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs528720387	chr15:54533007-54533008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149965282	chr15:54533014-54533015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74013519	chr15:54533016-54533017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs376928745	chr15:54533030-54533031	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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