Variant report

Variant	nsv1043237
Chromosome Location	chr15:54916301-55034633
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:55000280..55003286-chr15:55005591..55008128,3	K562	blood:
2	chr15:54926871..54929608-chr15:54933305..54935449,2	K562	blood:
3	chr15:55000280..55003286-chr15:55005591..55008128,3	K562	blood:
4	chr15:54926871..54929608-chr15:54933305..54935449,2	K562	blood:
5	chr15:55000191..55003653-chr15:55007581..55011163,3	MCF-7	breast:
6	chr15:55000191..55003653-chr15:55007581..55011163,3	MCF-7	breast:

No data

(count:2 , 50 per page) page: 1

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

Extended variants
information (count: 1510 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1510 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532081195	chr15:54916342-54916343	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184812530	chr15:54916365-54916366	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552503436	chr15:54916385-54916386	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148835032	chr15:54916403-54916404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375543334	chr15:54916414-54916415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143451129	chr15:54916468-54916469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs137858688	chr15:54916472-54916473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs36143500	chr15:54916499-54916500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575727388	chr15:54916546-54916547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544765153	chr15:54916569-54916570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146343166	chr15:54916599-54916600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10575153	chr15:54916600-54916601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs397713274	chr15:54916604-54916605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199829309	chr15:54916605-54916606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142260012	chr15:54916629-54916630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs578240536	chr15:54916630-54916631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547779520	chr15:54916709-54916710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573804988	chr15:54916716-54916717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540934664	chr15:54916761-54916762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560490226	chr15:54916803-54916804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189467219	chr15:54916826-54916827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549184023	chr15:54916827-54916828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111382677	chr15:54916838-54916839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531725980	chr15:54916844-54916845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550708845	chr15:54916903-54916904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544060991	chr15:54916904-54916905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539344318	chr15:54916915-54916916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546529405	chr15:54916920-54916921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9806516	chr15:54916921-54916922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566116264	chr15:54916939-54916940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535462271	chr15:54916972-54916973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2681965	chr15:54917004-54917005	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs183629475	chr15:54917005-54917006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115136637	chr15:54917018-54917019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74014272	chr15:54917048-54917049	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs75947886	chr15:54917087-54917088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540910370	chr15:54917101-54917102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554530538	chr15:54917102-54917103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74014273	chr15:54917132-54917133	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs542971246	chr15:54917133-54917134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78905557	chr15:54917159-54917160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562747851	chr15:54917182-54917183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188290322	chr15:54917213-54917214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544665503	chr15:54917249-54917250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545144534	chr15:54917306-54917307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563930139	chr15:54917324-54917325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532995745	chr15:54917346-54917347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559733925	chr15:54917392-54917393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74758619	chr15:54917412-54917413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62024029	chr15:54917427-54917428	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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54900000-54920600	Weak transcription	Aorta	Aorta
2	chr15:54915600-54916400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr15:54916000-54916400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr15:54916000-54918000	Strong transcription	Fetal Lung	lung
5	chr15:54918000-54920400	Weak transcription	Fetal Lung	lung
6	chr15:54920400-54921400	Strong transcription	Fetal Lung	lung
7	chr15:54920600-54921400	Strong transcription	Aorta	Aorta
8	chr15:54921200-54921600	Active TSS	Gastric	stomach
9	chr15:54921400-54923000	Weak transcription	Fetal Lung	lung
10	chr15:54921400-54925400	Weak transcription	Aorta	Aorta
11	chr15:54927800-54928000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr15:54933000-54933400	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr15:54933000-54933600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:54933000-54933600	Enhancers	Duodenum Mucosa	Duodenum
15	chr15:54933000-54933600	Enhancers	Fetal Intestine Large	intestine
16	chr15:54934000-54934200	Enhancers	Aorta	Aorta
17	chr15:54934200-54938000	Weak transcription	Aorta	Aorta
18	chr15:54941400-54942200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:54951400-54952000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr15:54952000-54952400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr15:54952400-54952800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr15:54968000-54968400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:54968600-54973200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr15:54970600-54970800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:54972400-54974600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr15:54972400-54975600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr15:54972600-54974600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr15:54973200-54973600	Enhancers	Primary hematopoietic stem cells	blood
29	chr15:54973600-54974400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr15:54973800-54974600	Enhancers	Primary B cells from cord blood	blood
31	chr15:54974400-54975800	Enhancers	Primary hematopoietic stem cells	blood
32	chr15:54974600-54975000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr15:54975000-54975600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
34	chr15:54979200-54979600	Enhancers	Pancreas	Pancrea
35	chr15:54979600-54980000	Active TSS	Pancreas	Pancrea
36	chr15:54979600-54980200	Enhancers	Liver	Liver
37	chr15:54979600-54980400	Active TSS	Duodenum Mucosa	Duodenum
38	chr15:54979600-54980400	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr15:54979600-54980400	Active TSS	A549	lung
40	chr15:54979600-54980600	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr15:54979800-54980400	Active TSS	Stomach Mucosa	stomach
42	chr15:54980000-54980400	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr15:54980000-54980600	Enhancers	Pancreas	Pancrea
44	chr15:54980400-54980600	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr15:54980400-54980600	Enhancers	Stomach Mucosa	stomach
46	chr15:54982800-54983400	Enhancers	Brain Germinal Matrix	brain
47	chr15:55000200-55000800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr15:55019000-55020000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr15:55019200-55019400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr15:55019400-55019800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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