Variant report

Variant	esv3420192
Chromosome Location	chr15:62305660-62309858
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:
2	chr15:62304589..62306825-chr15:62320734..62322432,2	K562	blood:

Extended variants
information (count: 189 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577138960	chr15:62305670-62305671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548598349	chr15:62305692-62305693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34419214	chr15:62305704-62305705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543822662	chr15:62305724-62305725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562511137	chr15:62305760-62305761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529751161	chr15:62305789-62305790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs180695003	chr15:62305835-62305836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185745517	chr15:62305868-62305869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112558813	chr15:62305895-62305896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527510065	chr15:62305922-62305923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574686909	chr15:62305974-62305975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188646328	chr15:62306022-62306023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181756243	chr15:62306039-62306040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186010735	chr15:62306064-62306065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375641398	chr15:62306112-62306113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117696749	chr15:62306113-62306114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142105242	chr15:62306131-62306132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531475736	chr15:62306132-62306133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116305045	chr15:62306142-62306143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573076695	chr15:62306152-62306153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199940730	chr15:62306177-62306178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369091486	chr15:62306187-62306188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370281523	chr15:62306203-62306204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558738141	chr15:62306205-62306206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372137228	chr15:62306222-62306223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577078882	chr15:62306229-62306230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117929248	chr15:62306244-62306245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183946104	chr15:62306245-62306246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28493143	chr15:62306263-62306264	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs541540276	chr15:62306273-62306274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374652078	chr15:62306330-62306331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560261850	chr15:62306331-62306332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187262040	chr15:62306336-62306337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552360239	chr15:62306356-62306357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7177850	chr15:62306358-62306359	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs531503188	chr15:62306376-62306377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550088875	chr15:62306417-62306418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569140378	chr15:62306438-62306439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11629528	chr15:62306455-62306456	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs11629645	chr15:62306474-62306475	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs150725700	chr15:62306478-62306479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139450049	chr15:62306480-62306481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558725973	chr15:62306481-62306482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570752906	chr15:62306491-62306492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538143769	chr15:62306504-62306505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556558406	chr15:62306572-62306573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117377100	chr15:62306641-62306642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182643101	chr15:62306649-62306650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541775817	chr15:62306664-62306665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553811553	chr15:62306682-62306683	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:146 , 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	chr15:62259400-62327200	Weak transcription	HepG2	liver
7	chr15:62262600-62312600	Weak transcription	NHEK	skin
8	chr15:62264000-62312600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr15:62264000-62323800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:62264000-62324000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:62265600-62338200	Weak transcription	Stomach Mucosa	stomach
12	chr15:62276400-62326800	Weak transcription	Thymus	Thymus
13	chr15:62276400-62345000	Weak transcription	Colon Smooth Muscle	Colon
14	chr15:62276600-62327600	Weak transcription	NHLF	lung
15	chr15:62276800-62317000	Weak transcription	Psoas Muscle	Psoas
16	chr15:62282200-62306600	Weak transcription	Brain Substantia Nigra	brain
17	chr15:62282200-62319000	Weak transcription	Fetal Brain Female	brain
18	chr15:62282200-62327800	Weak transcription	Colonic Mucosa	Colon
19	chr15:62282400-62314200	Weak transcription	Fetal Brain Male	brain
20	chr15:62287400-62322200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr15:62288600-62327600	Weak transcription	HMEC	breast
22	chr15:62288600-62336600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr15:62291000-62312400	Weak transcription	Left Ventricle	heart
24	chr15:62297000-62315000	Weak transcription	K562	blood
25	chr15:62298000-62307200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr15:62298000-62307400	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr15:62298000-62307400	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr15:62298200-62314000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr15:62298400-62307000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr15:62299000-62306800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr15:62299000-62307200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr15:62299000-62307400	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr15:62299000-62307400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr15:62299000-62307800	Strong transcription	Primary B cells from cord blood	blood
35	chr15:62299200-62306000	Strong transcription	NHDF-Ad	bronchial
36	chr15:62299200-62306200	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr15:62299200-62306200	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr15:62299200-62307200	Strong transcription	Liver	Liver
39	chr15:62299200-62307200	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr15:62299800-62307400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr15:62300000-62307200	Strong transcription	Dnd41	blood
42	chr15:62300000-62307400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr15:62300000-62307800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr15:62300000-62312600	Weak transcription	A549	lung
45	chr15:62300000-62314600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:62300000-62314800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr15:62300000-62327600	Weak transcription	Hela-S3	cervix
48	chr15:62300000-62327800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr15:62300000-62334600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr15:62300200-62305800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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