Variant report

Variant	nsv904238
Chromosome Location	chr15:54919539-54998764
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	chr15:54926871..54929608-chr15:54933305..54935449,2	K562	blood:
2	chr15:54926871..54929608-chr15:54933305..54935449,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	UNC13C	hsa-miR-128-3p	chr15:54919866-54919886
2	UNC13C	hsa-miR-128-3p	chr15:54919879-54919886

Extended variants
information (count: 1084 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1084 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11855187	chr15:54919539-54919540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567603232	chr15:54919556-54919557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529622505	chr15:54919559-54919560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572391633	chr15:54919589-54919590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376825252	chr15:54919605-54919606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193277782	chr15:54919639-54919640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374762748	chr15:54919682-54919683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537767265	chr15:54919698-54919699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551714816	chr15:54919725-54919726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183307170	chr15:54919733-54919734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145920559	chr15:54919803-54919804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550021635	chr15:54919851-54919852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77133106	chr15:54919858-54919859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138474314	chr15:54919864-54919865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139956568	chr15:54919905-54919906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369212537	chr15:54919906-54919907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200556427	chr15:54919925-54919926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188705188	chr15:54919941-54919942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192529365	chr15:54919942-54919943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201937862	chr15:54919962-54919963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7169130	chr15:54919999-54920000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs541987641	chr15:54920000-54920001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs151117386	chr15:54920008-54920009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372763264	chr15:54920009-54920010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377235828	chr15:54920016-54920017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74876681	chr15:54920117-54920118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149629271	chr15:54920158-54920159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74014274	chr15:54920166-54920167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs537139494	chr15:54920175-54920176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557524268	chr15:54920176-54920177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575956674	chr15:54920182-54920183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28704091	chr15:54920185-54920186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs563150666	chr15:54920192-54920193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28497739	chr15:54920232-54920233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs184331030	chr15:54920235-54920236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74014276	chr15:54920263-54920264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs541322694	chr15:54920267-54920268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188240453	chr15:54920291-54920292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148343113	chr15:54920294-54920295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543099653	chr15:54920330-54920331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563073565	chr15:54920358-54920359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557759309	chr15:54920380-54920381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377732689	chr15:54920418-54920419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142374743	chr15:54920420-54920421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs67148096	chr15:54920421-54920422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116165766	chr15:54920476-54920477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57414062	chr15:54920481-54920482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76792535	chr15:54920485-54920486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559521054	chr15:54920492-54920493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528776016	chr15:54920495-54920496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Renal cell carcinoma	21215367	CNVD
Cancer	20164919	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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54900000-54920600	Weak transcription	Aorta	Aorta
2	chr15:54918000-54920400	Weak transcription	Fetal Lung	lung
3	chr15:54920400-54921400	Strong transcription	Fetal Lung	lung
4	chr15:54920600-54921400	Strong transcription	Aorta	Aorta
5	chr15:54921200-54921600	Active TSS	Gastric	stomach
6	chr15:54921400-54923000	Weak transcription	Fetal Lung	lung
7	chr15:54921400-54925400	Weak transcription	Aorta	Aorta
8	chr15:54927800-54928000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:54933000-54933400	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr15:54933000-54933600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr15:54933000-54933600	Enhancers	Duodenum Mucosa	Duodenum
12	chr15:54933000-54933600	Enhancers	Fetal Intestine Large	intestine
13	chr15:54934000-54934200	Enhancers	Aorta	Aorta
14	chr15:54934200-54938000	Weak transcription	Aorta	Aorta
15	chr15:54941400-54942200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:54951400-54952000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr15:54952000-54952400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr15:54952400-54952800	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr15:54968000-54968400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:54968600-54973200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr15:54970600-54970800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:54972400-54974600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr15:54972400-54975600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:54972600-54974600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:54973200-54973600	Enhancers	Primary hematopoietic stem cells	blood
26	chr15:54973600-54974400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr15:54973800-54974600	Enhancers	Primary B cells from cord blood	blood
28	chr15:54974400-54975800	Enhancers	Primary hematopoietic stem cells	blood
29	chr15:54974600-54975000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr15:54975000-54975600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr15:54979200-54979600	Enhancers	Pancreas	Pancrea
32	chr15:54979600-54980000	Active TSS	Pancreas	Pancrea
33	chr15:54979600-54980200	Enhancers	Liver	Liver
34	chr15:54979600-54980400	Active TSS	Duodenum Mucosa	Duodenum
35	chr15:54979600-54980400	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr15:54979600-54980400	Active TSS	A549	lung
37	chr15:54979600-54980600	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr15:54979800-54980400	Active TSS	Stomach Mucosa	stomach
39	chr15:54980000-54980400	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr15:54980000-54980600	Enhancers	Pancreas	Pancrea
41	chr15:54980400-54980600	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr15:54980400-54980600	Enhancers	Stomach Mucosa	stomach
43	chr15:54982800-54983400	Enhancers	Brain Germinal Matrix	brain

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