Variant report

Variant	esv3437814
Chromosome Location	chr15:62306560-62310858
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: 179 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:179 , 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	rs556558406	chr15:62306572-62306573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117377100	chr15:62306641-62306642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182643101	chr15:62306649-62306650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541775817	chr15:62306664-62306665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553811553	chr15:62306682-62306683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572124568	chr15:62306709-62306710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187160489	chr15:62306727-62306728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564262207	chr15:62306736-62306737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145317437	chr15:62306744-62306745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543327361	chr15:62306757-62306758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561987066	chr15:62306801-62306802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184487594	chr15:62306838-62306839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529187210	chr15:62306852-62306853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191661182	chr15:62306857-62306858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566575285	chr15:62306864-62306865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527773134	chr15:62306882-62306883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189245304	chr15:62306982-62306983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545434595	chr15:62307012-62307013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147630607	chr15:62307016-62307017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570935693	chr15:62307036-62307037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182971854	chr15:62307044-62307045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187306452	chr15:62307053-62307054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577382020	chr15:62307060-62307061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568697934	chr15:62307100-62307101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs193058897	chr15:62307120-62307121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142192371	chr15:62307143-62307144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35688931	chr15:62307216-62307217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149710203	chr15:62307223-62307224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576075704	chr15:62307228-62307229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145557804	chr15:62307242-62307243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561740299	chr15:62307243-62307244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529187729	chr15:62307278-62307279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573634232	chr15:62307290-62307291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75989454	chr15:62307315-62307316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542249741	chr15:62307360-62307361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185579121	chr15:62307436-62307437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs8027343	chr15:62307472-62307473	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs148962670	chr15:62307545-62307546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369937946	chr15:62307548-62307549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143709313	chr15:62307591-62307592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531722181	chr15:62307623-62307624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377489225	chr15:62307630-62307631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550302266	chr15:62307673-62307674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568607317	chr15:62307696-62307697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71431423	chr15:62307709-62307710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370961810	chr15:62307739-62307740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531212310	chr15:62307744-62307745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565655068	chr15:62307806-62307807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541969714	chr15:62307815-62307816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551419370	chr15:62307860-62307861	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
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:137 , 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	chr15:62299200-62307200	Strong transcription	Liver	Liver
36	chr15:62299200-62307200	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr15:62299800-62307400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr15:62300000-62307200	Strong transcription	Dnd41	blood
39	chr15:62300000-62307400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr15:62300000-62307800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr15:62300000-62312600	Weak transcription	A549	lung
42	chr15:62300000-62314600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:62300000-62314800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr15:62300000-62327600	Weak transcription	Hela-S3	cervix
45	chr15:62300000-62327800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr15:62300000-62334600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr15:62300200-62327600	Weak transcription	NH-A	brain
48	chr15:62300400-62312600	Weak transcription	Fetal Kidney	kidney
49	chr15:62300400-62351400	Weak transcription	Fetal Muscle Leg	muscle
50	chr15:62300600-62312000	Weak transcription	Fetal Intestine Large	intestine

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