Variant report

Variant	esv2582405
Chromosome Location	chr15:62301076-62302563
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	chr15:62299637..62301994-chr15:62304316..62306759,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7168164	chr15:62301094-62301095	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576994393	chr15:62301157-62301158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538025408	chr15:62301162-62301163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556373447	chr15:62301231-62301232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575022541	chr15:62301244-62301245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538447753	chr15:62301264-62301265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369141917	chr15:62301281-62301282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372459833	chr15:62301296-62301297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542555925	chr15:62301347-62301348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559848364	chr15:62301372-62301373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553290799	chr15:62301376-62301377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76119880	chr15:62301390-62301391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564192584	chr15:62301427-62301428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377190132	chr15:62301439-62301440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549987683	chr15:62301445-62301446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538536332	chr15:62301450-62301451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11632560	chr15:62301498-62301499	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs80157702	chr15:62301510-62301511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547712439	chr15:62301517-62301518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574768476	chr15:62301562-62301563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191965080	chr15:62301565-62301566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533961824	chr15:62301573-62301574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552177675	chr15:62301611-62301612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570578558	chr15:62301626-62301627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs8033716	chr15:62301645-62301646	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs536460125	chr15:62301690-62301691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556434998	chr15:62301746-62301747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79123210	chr15:62301785-62301786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535764026	chr15:62301828-62301829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184715055	chr15:62301839-62301840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189162151	chr15:62301846-62301847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545787051	chr15:62301865-62301866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150526144	chr15:62301878-62301879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576162919	chr15:62302011-62302012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373842411	chr15:62302052-62302053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181042422	chr15:62302112-62302113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139463026	chr15:62302115-62302116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529122776	chr15:62302141-62302142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540948187	chr15:62302149-62302150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111863782	chr15:62302158-62302159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559572446	chr15:62302171-62302172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576457948	chr15:62302211-62302212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185931276	chr15:62302237-62302238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533075435	chr15:62302250-62302251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552114278	chr15:62302290-62302291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115600852	chr15:62302321-62302322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540616969	chr15:62302336-62302337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550290229	chr15:62302365-62302366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370350497	chr15:62302366-62302367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189945495	chr15:62302385-62302386	Weak transcription Strong 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
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
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
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:62185600-62333600	Weak transcription	Right Ventricle	heart
2	chr15:62188600-62309400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr15:62221400-62327600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:62230800-62317200	Weak transcription	Pancreas	Pancrea
5	chr15:62244600-62350400	Weak transcription	Small Intestine	intestine
6	chr15:62254000-62303600	Weak transcription	Spleen	Spleen
7	chr15:62259400-62327200	Weak transcription	HepG2	liver
8	chr15:62262600-62312600	Weak transcription	NHEK	skin
9	chr15:62264000-62312600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr15:62264000-62323800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:62264000-62324000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:62265600-62338200	Weak transcription	Stomach Mucosa	stomach
13	chr15:62276400-62326800	Weak transcription	Thymus	Thymus
14	chr15:62276400-62345000	Weak transcription	Colon Smooth Muscle	Colon
15	chr15:62276600-62327600	Weak transcription	NHLF	lung
16	chr15:62276800-62317000	Weak transcription	Psoas Muscle	Psoas
17	chr15:62278000-62302000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:62282200-62306600	Weak transcription	Brain Substantia Nigra	brain
19	chr15:62282200-62319000	Weak transcription	Fetal Brain Female	brain
20	chr15:62282200-62327800	Weak transcription	Colonic Mucosa	Colon
21	chr15:62282400-62314200	Weak transcription	Fetal Brain Male	brain
22	chr15:62287400-62322200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:62288600-62327600	Weak transcription	HMEC	breast
24	chr15:62288600-62336600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr15:62291000-62302800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr15:62291000-62312400	Weak transcription	Left Ventricle	heart
27	chr15:62293600-62304000	Weak transcription	HSMM	muscle
28	chr15:62297000-62315000	Weak transcription	K562	blood
29	chr15:62297800-62301200	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr15:62298000-62301600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:62298000-62307200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr15:62298000-62307400	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr15:62298000-62307400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr15:62298200-62301400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr15:62298200-62314000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr15:62298400-62307000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr15:62299000-62301400	Strong transcription	Osteobl	bone
38	chr15:62299000-62302800	Strong transcription	Duodenum Mucosa	Duodenum
39	chr15:62299000-62303000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr15:62299000-62303400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr15:62299000-62306800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr15:62299000-62307200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr15:62299000-62307400	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr15:62299000-62307400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr15:62299000-62307800	Strong transcription	Primary B cells from cord blood	blood
46	chr15:62299200-62301600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr15:62299200-62301600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr15:62299200-62302400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr15:62299200-62306000	Strong transcription	NHDF-Ad	bronchial
50	chr15:62299200-62306200	Strong transcription	Duodenum Smooth Muscle	Duodenum

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