Variant report

Variant	esv1831204
Chromosome Location	chr15:54979723-54985244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576861973	chr15:54979769-54979770	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs545873165	chr15:54979841-54979842	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs141594160	chr15:54979844-54979845	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs572194686	chr15:54979870-54979871	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs150477037	chr15:54979878-54979879	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs72743749	chr15:54979890-54979891	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs561137681	chr15:54979891-54979892	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs529918998	chr15:54979893-54979894	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs188393730	chr15:54979899-54979900	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs138450742	chr15:54979905-54979906	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs7168117	chr15:54979920-54979921	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs575904229	chr15:54979956-54979957	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs114195419	chr15:54979975-54979976	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs181217218	chr15:54980007-54980008	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs528194368	chr15:54980018-54980019	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs375120183	chr15:54980023-54980024	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs116170519	chr15:54980024-54980025	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs201861831	chr15:54980031-54980032	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs568657438	chr15:54980041-54980042	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs537331107	chr15:54980047-54980048	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs200873784	chr15:54980080-54980081	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs7168810	chr15:54980081-54980082	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs7168524	chr15:54980088-54980089	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs552957541	chr15:54980097-54980098	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs34713243	chr15:54980103-54980104	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs369886939	chr15:54980108-54980109	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs372806187	chr15:54980128-54980129	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs554432693	chr15:54980132-54980133	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs74014847	chr15:54980159-54980160	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs543718284	chr15:54980171-54980172	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs12916090	chr15:54980204-54980205	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs7169170	chr15:54980257-54980258	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs545770832	chr15:54980287-54980288	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7169005	chr15:54980293-54980294	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs528143304	chr15:54980303-54980304	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548302300	chr15:54980335-54980336	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562122668	chr15:54980394-54980395	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557003682	chr15:54980409-54980410	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs28575674	chr15:54980469-54980470	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs539744917	chr15:54980487-54980488	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546559810	chr15:54980489-54980490	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34699429	chr15:54980493-54980494	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566872393	chr15:54980513-54980514	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535562623	chr15:54980527-54980528	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377092317	chr15:54982824-54982825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576778591	chr15:54982864-54982865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545728212	chr15:54982923-54982924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112066718	chr15:54982961-54982962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116295952	chr15:54982990-54982991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541511054	chr15:54982996-54982997	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
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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	17440070	CNVD
Renal cell carcinoma	21215367	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54979600-54980000	Active TSS	Pancreas	Pancrea
2	chr15:54979600-54980200	Enhancers	Liver	Liver
3	chr15:54979600-54980400	Active TSS	Duodenum Mucosa	Duodenum
4	chr15:54979600-54980400	Active TSS	Rectal Mucosa Donor 31	rectum
5	chr15:54979600-54980400	Active TSS	A549	lung
6	chr15:54979600-54980600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr15:54979800-54980400	Active TSS	Stomach Mucosa	stomach
8	chr15:54980000-54980400	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr15:54980000-54980600	Enhancers	Pancreas	Pancrea
10	chr15:54980400-54980600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr15:54980400-54980600	Enhancers	Stomach Mucosa	stomach
12	chr15:54982800-54983400	Enhancers	Brain Germinal Matrix	brain

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