Variant report

Variant	nsv827308
Chromosome Location	chr15:42526756-42528383
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	chr15:42515383..42517801-chr15:42527177..42529552,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561582526	chr15:42526774-42526775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192633904	chr15:42526799-42526800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547668104	chr15:42526840-42526841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570598327	chr15:42526869-42526870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184904923	chr15:42526913-42526914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549641049	chr15:42526926-42526927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569436394	chr15:42526989-42526990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189802030	chr15:42527008-42527009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373574978	chr15:42527025-42527026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111704868	chr15:42527044-42527045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565286716	chr15:42527086-42527087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376533289	chr15:42527120-42527121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2620387	chr15:42527218-42527219	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs529125365	chr15:42527220-42527221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs578134327	chr15:42527300-42527301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142940045	chr15:42527358-42527359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557239493	chr15:42527464-42527465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192999195	chr15:42527472-42527473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184354622	chr15:42527484-42527485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374440961	chr15:42527507-42527508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367704780	chr15:42527528-42527529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188790555	chr15:42527608-42527609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573267480	chr15:42527664-42527665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146446542	chr15:42527676-42527677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139889687	chr15:42527735-42527736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533052602	chr15:42527747-42527748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549961335	chr15:42527761-42527762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563101378	chr15:42527772-42527773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528956438	chr15:42527817-42527818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548663128	chr15:42527821-42527822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114061879	chr15:42527840-42527841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534595059	chr15:42527855-42527856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs16972904	chr15:42527866-42527867	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs571929483	chr15:42527892-42527893	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537306341	chr15:42527935-42527936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146651828	chr15:42527997-42527998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1712410	chr15:42528007-42528008	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs534135149	chr15:42528024-42528025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557225328	chr15:42528123-42528124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536784836	chr15:42528137-42528138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554407616	chr15:42528160-42528161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181942149	chr15:42528186-42528187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61295252	chr15:42528196-42528197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376577940	chr15:42528207-42528208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140117458	chr15:42528238-42528239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186146555	chr15:42528244-42528245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577875730	chr15:42528266-42528267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543303068	chr15:42528334-42528335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375408817	chr15:42528363-42528364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189286358	chr15:42528365-42528366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Intracranial arachnoid cysts	20187927	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42500800-42563200	Weak transcription	Stomach Mucosa	stomach
2	chr15:42501000-42534800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr15:42501000-42536600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:42501000-42536800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr15:42501000-42538000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr15:42501200-42532400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr15:42501800-42536800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:42502000-42535000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr15:42502200-42534000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:42502200-42536600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr15:42502800-42535200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:42502800-42536400	Strong transcription	Fetal Muscle Leg	muscle
13	chr15:42503200-42544000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:42506800-42532000	Strong transcription	Placenta	Placenta
15	chr15:42508000-42532200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr15:42509400-42535200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:42511800-42536800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr15:42513200-42532200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr15:42513800-42534800	Strong transcription	Liver	Liver
20	chr15:42514000-42534800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr15:42514000-42535200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr15:42514200-42527000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr15:42514200-42532400	Strong transcription	Adipose Nuclei	Adipose
24	chr15:42514200-42535200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:42514200-42535200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr15:42514400-42531800	Strong transcription	Primary T cells from cord blood	blood
27	chr15:42514400-42533600	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr15:42514400-42534800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:42514400-42535000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr15:42514400-42535000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:42514400-42536400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr15:42514400-42536400	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr15:42514400-42537200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr15:42514600-42535000	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr15:42514800-42532000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr15:42515000-42535400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr15:42515000-42544600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr15:42515200-42526800	Strong transcription	Brain Anterior Caudate	brain
39	chr15:42515200-42534800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr15:42515400-42535400	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr15:42515600-42526800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr15:42515600-42530400	Strong transcription	NH-A	brain
43	chr15:42515600-42532600	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr15:42515600-42535000	Strong transcription	Primary B cells from cord blood	blood
45	chr15:42515800-42532400	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr15:42516000-42535200	Strong transcription	Primary B cells from peripheral blood	blood
47	chr15:42516800-42527600	Weak transcription	Small Intestine	intestine
48	chr15:42519200-42527400	Weak transcription	Right Ventricle	heart
49	chr15:42519200-42528200	Weak transcription	A549	lung
50	chr15:42519200-42528400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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