Variant report

Variant	nsv976924
Chromosome Location	chr15:41597978-41598575
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:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:41593303..41595155-chr15:41597240..41599899,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC012652.1.1-1	chr15:41594573-41598729	NONHSAT041936
2	lnc-AC012652.1.1-1	chr15:41590239-41598727	XLOC_011226
3	lnc-AC012652.1.1-1	chr15:41590239-41598727	XLOC_011226
4	lnc-OIP5-1	chr15:41588773-41598741	XLOC_011448
5	lnc-OIP5-1	chr15:41597681-41598727	XLOC_011448

No data

Variant related genes	Relation type
LDLRAP1	miRNA target sites
DICER1	miRNA target sites

Extended variants
information (count: 24 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576111715	chr15:41598014-41598015	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs547702383	chr15:41598024-41598025	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs534152619	chr15:41598028-41598029	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs183699927	chr15:41598036-41598037	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs571069074	chr15:41598071-41598072	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs372411776	chr15:41598109-41598110	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs540168795	chr15:41598132-41598133	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs556895694	chr15:41598145-41598146	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs11550422	chr15:41598154-41598155	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs576537602	chr15:41598170-41598171	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs535836313	chr15:41598219-41598220	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs188223281	chr15:41598274-41598275	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs117991498	chr15:41598335-41598336	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs533955535	chr15:41598356-41598357	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs143385490	chr15:41598360-41598361	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs76640242	chr15:41598393-41598394	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs560334857	chr15:41598400-41598401	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs529084952	chr15:41598431-41598432	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs10467974	chr15:41598448-41598449	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs546106161	chr15:41598453-41598454	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs193294714	chr15:41598521-41598522	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs562427285	chr15:41598530-41598531	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs11298	chr15:41598531-41598532	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs547756502	chr15:41598553-41598554	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
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
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41577400-41610600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:41577600-41606400	Weak transcription	Stomach Mucosa	stomach
3	chr15:41579200-41612400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:41580600-41603200	Weak transcription	Psoas Muscle	Psoas
5	chr15:41581200-41598400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr15:41581200-41601400	Weak transcription	NHDF-Ad	bronchial
7	chr15:41581200-41602200	Weak transcription	Brain Hippocampus Middle	brain
8	chr15:41581200-41602600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr15:41581200-41604800	Weak transcription	Gastric	stomach
10	chr15:41581200-41605000	Weak transcription	Brain Substantia Nigra	brain
11	chr15:41581200-41607000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr15:41581200-41609600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr15:41581200-41623600	Weak transcription	Fetal Brain Male	brain
14	chr15:41581400-41605000	Weak transcription	HMEC	breast
15	chr15:41581400-41610400	Weak transcription	NHLF	lung
16	chr15:41581600-41601800	Weak transcription	Fetal Lung	lung
17	chr15:41581600-41623600	Weak transcription	Fetal Kidney	kidney
18	chr15:41583200-41623600	Weak transcription	HSMM	muscle
19	chr15:41583800-41613000	Weak transcription	Right Ventricle	heart
20	chr15:41584000-41604800	Weak transcription	Aorta	Aorta
21	chr15:41585000-41602800	Weak transcription	Colon Smooth Muscle	Colon
22	chr15:41585600-41623600	Weak transcription	Primary B cells from cord blood	blood
23	chr15:41587200-41606800	Weak transcription	Fetal Heart	heart
24	chr15:41587600-41623000	Weak transcription	NHEK	skin
25	chr15:41588400-41600600	Weak transcription	Hela-S3	cervix
26	chr15:41589400-41601800	Weak transcription	K562	blood
27	chr15:41589400-41603600	Weak transcription	Spleen	Spleen
28	chr15:41589400-41604800	Weak transcription	Pancreas	Pancrea
29	chr15:41589600-41604800	Weak transcription	Lung	lung
30	chr15:41589600-41624000	Weak transcription	Esophagus	oesophagus
31	chr15:41590200-41601800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr15:41590200-41609200	Weak transcription	Colonic Mucosa	Colon
33	chr15:41590200-41623600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr15:41590400-41600000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr15:41590600-41601800	Weak transcription	Primary T cells from cord blood	blood
36	chr15:41590600-41602000	Weak transcription	Brain Germinal Matrix	brain
37	chr15:41590600-41603000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr15:41590600-41606800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr15:41590600-41623000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr15:41590800-41623000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr15:41591000-41606600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:41591200-41605000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr15:41591200-41623800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr15:41591200-41624000	Weak transcription	HSMMtube	muscle
45	chr15:41591600-41599800	Weak transcription	Fetal Intestine Small	intestine
46	chr15:41591600-41600600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr15:41591600-41601000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr15:41591600-41601800	Weak transcription	Left Ventricle	heart
49	chr15:41591600-41602400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr15:41591600-41606600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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