Variant report

Variant	esv20296
Chromosome Location	chr15:60623455-60632031
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:60628641..60631521-chr15:60635150..60637582,2	K562	blood:
2	chr15:60630021..60635079-chr15:60635150..60637912,4	K562	blood:
3	chr15:60631638..60634015-chr15:60636412..60639111,3	K562	blood:

Extended variants
information (count: 378 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73435108	chr15:60623458-60623459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530361637	chr15:60623479-60623480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533299372	chr15:60623480-60623481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs60056364	chr15:60623489-60623490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143534166	chr15:60623502-60623503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563317333	chr15:60623536-60623537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2414668	chr15:60623545-60623546	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs369590161	chr15:60623567-60623568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563074877	chr15:60623571-60623572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548812257	chr15:60623610-60623611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567797659	chr15:60623632-60623633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78721720	chr15:60623676-60623677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546827235	chr15:60623692-60623693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140346662	chr15:60623763-60623764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538995154	chr15:60623873-60623874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556927849	chr15:60623910-60623911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576429444	chr15:60623942-60623943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188128217	chr15:60623946-60623947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568920913	chr15:60623955-60623956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536703896	chr15:60623974-60623975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554787973	chr15:60623994-60623995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545609667	chr15:60624053-60624054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181025020	chr15:60624079-60624080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565260714	chr15:60624082-60624083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560816712	chr15:60624119-60624120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373032192	chr15:60624125-60624126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4485290	chr15:60624145-60624146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs149319556	chr15:60624146-60624147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577995180	chr15:60624168-60624169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545360148	chr15:60624169-60624170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563231869	chr15:60624178-60624179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183631951	chr15:60624216-60624217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542675047	chr15:60624225-60624226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560807617	chr15:60624255-60624256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528219763	chr15:60624277-60624278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546788532	chr15:60624331-60624332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189691185	chr15:60624341-60624342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28870083	chr15:60624346-60624347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs148487436	chr15:60624369-60624370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372987631	chr15:60624372-60624373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569206027	chr15:60624383-60624384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561505529	chr15:60624384-60624385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536265912	chr15:60624391-60624392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554982573	chr15:60624394-60624395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566829324	chr15:60624427-60624428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534335418	chr15:60624464-60624465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142597741	chr15:60624499-60624500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28771688	chr15:60624520-60624521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs140050202	chr15:60624561-60624562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550060881	chr15:60624580-60624581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:60621600-60627600	Weak transcription	NHDF-Ad	bronchial
2	chr15:60621800-60627600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:60622200-60623800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr15:60623200-60639400	Weak transcription	Fetal Heart	heart
5	chr15:60626400-60636200	Weak transcription	HSMM	muscle
6	chr15:60627200-60635400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:60627600-60627800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:60627600-60627800	Enhancers	Fetal Stomach	stomach
9	chr15:60627600-60627800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr15:60627600-60627800	Enhancers	NHDF-Ad	bronchial
11	chr15:60627600-60628000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr15:60627600-60628600	Enhancers	Liver	Liver
13	chr15:60627600-60628800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:60627800-60628400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr15:60627800-60635600	Weak transcription	Fetal Stomach	stomach
16	chr15:60627800-60635800	Weak transcription	NHDF-Ad	bronchial
17	chr15:60627800-60637200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr15:60628000-60628200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:60628000-60628800	Enhancers	A549	lung
20	chr15:60628200-60628600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:60628400-60628600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr15:60628400-60628600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:60628400-60629200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr15:60628600-60632600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr15:60628600-60632800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:60628600-60635400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr15:60628600-60637600	Weak transcription	Liver	Liver
28	chr15:60628800-60630000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr15:60628800-60631200	Weak transcription	A549	lung
30	chr15:60629000-60629400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr15:60629200-60629400	Enhancers	Fetal Muscle Trunk	muscle
32	chr15:60629400-60629800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr15:60629400-60636400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr15:60629800-60630000	Enhancers	Fetal Muscle Leg	muscle
35	chr15:60629800-60630000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr15:60630000-60631000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr15:60630000-60631400	Weak transcription	Fetal Muscle Leg	muscle
38	chr15:60630000-60631400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr15:60630600-60632800	Enhancers	HepG2	liver
40	chr15:60630800-60631000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:60631000-60631200	Enhancers	Duodenum Mucosa	Duodenum
42	chr15:60631000-60631200	Enhancers	Psoas Muscle	Psoas
43	chr15:60631000-60633200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr15:60631000-60635400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr15:60631200-60631400	Enhancers	A549	lung
46	chr15:60631200-60633000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr15:60631200-60637200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr15:60631200-60637800	Weak transcription	Psoas Muscle	Psoas
49	chr15:60631200-60637800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr15:60631400-60631800	Weak transcription	A549	lung

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