Variant report

Variant	esv2763100
Chromosome Location	chr15:56766195-56771439
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	chr15:56762921..56765735-chr15:56765770..56767934,2	K562	blood:

Extended variants
information (count: 149 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16976922	chr15:56767623-56767624	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548118510	chr15:56767632-56767633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568221774	chr15:56767709-56767710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188936005	chr15:56767725-56767726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191857375	chr15:56767728-56767729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77699201	chr15:56767730-56767731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539870472	chr15:56767742-56767743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570371358	chr15:56767782-56767783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538696547	chr15:56767786-56767787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558521258	chr15:56767792-56767793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553337646	chr15:56767822-56767823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572243206	chr15:56767828-56767829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77888126	chr15:56767840-56767841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554738883	chr15:56767879-56767880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574992966	chr15:56767923-56767924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74202764	chr15:56767957-56767958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368598924	chr15:56767959-56767960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563976113	chr15:56767986-56767987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577607450	chr15:56767996-56767997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35226909	chr15:56768010-56768011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs35114838	chr15:56768017-56768018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115751785	chr15:56768020-56768021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71110397	chr15:56768035-56768036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs398027414	chr15:56768038-56768039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528202063	chr15:56768070-56768071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548284741	chr15:56768089-56768090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141823306	chr15:56768123-56768124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530739978	chr15:56768145-56768146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183826182	chr15:56768165-56768166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12912977	chr15:56768166-56768167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12914162	chr15:56768167-56768168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550502045	chr15:56768211-56768212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375720321	chr15:56768241-56768242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs36180338	chr15:56768270-56768271	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs533044985	chr15:56768285-56768286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555701580	chr15:56768286-56768287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565758440	chr15:56768305-56768306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534675274	chr15:56768332-56768333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555056380	chr15:56768346-56768347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368187791	chr15:56768374-56768375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568416348	chr15:56768458-56768459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537696471	chr15:56768459-56768460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188156046	chr15:56768514-56768515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62023878	chr15:56768543-56768544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577646153	chr15:56768582-56768583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546497199	chr15:56768583-56768584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71476796	chr15:56768587-56768588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572808671	chr15:56768611-56768612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34262093	chr15:56768629-56768630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12324425	chr15:56768632-56768633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56767600-56768000	Enhancers	Fetal Thymus	thymus
2	chr15:56767600-56768000	Enhancers	Thymus	Thymus
3	chr15:56768000-56774200	Weak transcription	Fetal Thymus	thymus

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