Variant report

Variant	nsv516656
Chromosome Location	chr15:55131283-55136755
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 181 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:181 , 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	rs17818837	chr15:55131283-55131284	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538424963	chr15:55131296-55131297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558468527	chr15:55131300-55131301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374458223	chr15:55131307-55131308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540632898	chr15:55131340-55131341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17818843	chr15:55131341-55131342	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs192160437	chr15:55131371-55131372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2695653	chr15:55131398-55131399	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs187026718	chr15:55131423-55131424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532779177	chr15:55131435-55131436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191119242	chr15:55131500-55131501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542384159	chr15:55131528-55131529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75255255	chr15:55131530-55131531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139636699	chr15:55131551-55131552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183760044	chr15:55131561-55131562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548317012	chr15:55131584-55131585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149799073	chr15:55131648-55131649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114179577	chr15:55131689-55131690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190616967	chr15:55131717-55131718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551083210	chr15:55131752-55131753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17818849	chr15:55131780-55131781	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs538485763	chr15:55131820-55131821	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs558289258	chr15:55131840-55131841	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs193126274	chr15:55131844-55131845	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs534575243	chr15:55131856-55131857	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs554281762	chr15:55131857-55131858	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs111552832	chr15:55131945-55131946	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs112287897	chr15:55131973-55131974	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs367972278	chr15:55131980-55131981	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs574405412	chr15:55131981-55131982	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs543026823	chr15:55131986-55131987	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs563441205	chr15:55132039-55132040	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs185211064	chr15:55132041-55132042	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs546425339	chr15:55132050-55132051	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs147892111	chr15:55132059-55132060	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs528812205	chr15:55132072-55132073	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs141559717	chr15:55132117-55132118	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs147028102	chr15:55132129-55132130	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs371980967	chr15:55132154-55132155	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs1949577	chr15:55132158-55132159	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs574721792	chr15:55132196-55132197	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs1949578	chr15:55132260-55132261	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs570621346	chr15:55132263-55132264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72734131	chr15:55132270-55132271	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs551974054	chr15:55132273-55132274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79466137	chr15:55132318-55132319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534501729	chr15:55132340-55132341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117462457	chr15:55132390-55132391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377223247	chr15:55132395-55132396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2246944	chr15:55132409-55132410	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	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
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	17440070	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55117600-55131800	Weak transcription	Aorta	Aorta
2	chr15:55131000-55131800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr15:55131000-55132400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr15:55131200-55132400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr15:55131200-55133200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr15:55131200-55133200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr15:55131800-55132000	Flanking Active TSS	Aorta	Aorta
8	chr15:55131800-55132800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr15:55131800-55133200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr15:55132000-55132200	Active TSS	Aorta	Aorta
11	chr15:55132000-55133200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr15:55132000-55133200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr15:55132400-55132800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr15:55132800-55133200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr15:55133000-55133200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr15:55133000-55133200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr15:55133000-55133200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:55134200-55136200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr15:55134400-55134600	Enhancers	Skeletal Muscle Female	skeletal muscle

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