Variant report

Variant	esv20320
Chromosome Location	chr15:53678778-53679782
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1400213	chr15:53678801-53678802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375147205	chr15:53678836-53678837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115946766	chr15:53678857-53678858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1400212	chr15:53678872-53678873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs568765837	chr15:53678880-53678881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183634640	chr15:53678919-53678920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2414233	chr15:53678929-53678930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs186502570	chr15:53678939-53678940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368610411	chr15:53678993-53678994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571555784	chr15:53679000-53679001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34779474	chr15:53679001-53679002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1038552	chr15:53679002-53679003	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs149229769	chr15:53679060-53679061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146890139	chr15:53679097-53679098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191325593	chr15:53679105-53679106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1038553	chr15:53679121-53679122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs182130069	chr15:53679199-53679200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564164201	chr15:53679257-53679258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186732105	chr15:53679273-53679274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540384090	chr15:53679324-53679325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531724912	chr15:53679333-53679334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370257453	chr15:53679357-53679358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192360904	chr15:53679363-53679364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549245565	chr15:53679405-53679406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565533414	chr15:53679425-53679426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562771783	chr15:53679444-53679445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531594307	chr15:53679462-53679463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183274338	chr15:53679490-53679491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571365423	chr15:53679497-53679498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534127509	chr15:53679526-53679527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541968967	chr15:53679530-53679531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547645042	chr15:53679604-53679605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147930476	chr15:53679609-53679610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78938193	chr15:53679610-53679611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556791226	chr15:53679611-53679612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575353494	chr15:53679622-53679623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188183801	chr15:53679674-53679675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1501067	chr15:53679719-53679720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs193132932	chr15:53679731-53679732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1501068	chr15:53679765-53679766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

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
Breast cancer	21785460	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53677400-53679200	Weak transcription	Pancreas	Pancrea
2	chr15:53677400-53680600	Weak transcription	HepG2	liver
3	chr15:53679200-53679400	Enhancers	Pancreas	Pancrea

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