Variant report

Variant	esv33332
Chromosome Location	chr15:30282956-30285872
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 152 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141492476	chr15:30282964-30282965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557433024	chr15:30282967-30282968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577289684	chr15:30283040-30283041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533558119	chr15:30283048-30283049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532225912	chr15:30283171-30283172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553759726	chr15:30283197-30283198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573553979	chr15:30283198-30283199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs16954892	chr15:30283217-30283218	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568864056	chr15:30283265-30283266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78615869	chr15:30283289-30283290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150847948	chr15:30283299-30283300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191849624	chr15:30283322-30283323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182500087	chr15:30283408-30283409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564588744	chr15:30283462-30283463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533497622	chr15:30283467-30283468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540343608	chr15:30283478-30283479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569525834	chr15:30283479-30283480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139283716	chr15:30283556-30283557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529260842	chr15:30283559-30283560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142817641	chr15:30283577-30283578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147396155	chr15:30283578-30283579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115605516	chr15:30283648-30283649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551524765	chr15:30283785-30283786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374840577	chr15:30283800-30283801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571486204	chr15:30283830-30283831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145285231	chr15:30283834-30283835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553578087	chr15:30283876-30283877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567264207	chr15:30283927-30283928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56290869	chr15:30283950-30283951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs556445586	chr15:30284011-30284012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554556613	chr15:30284013-30284014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373367031	chr15:30284025-30284026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187547097	chr15:30284030-30284031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143907499	chr15:30284105-30284106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79330861	chr15:30284112-30284113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57284284	chr15:30284165-30284166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs540759547	chr15:30284188-30284189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560342107	chr15:30284201-30284202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111921208	chr15:30284248-30284249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542626382	chr15:30284251-30284252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553527985	chr15:30284274-30284275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554077917	chr15:30284275-30284276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531916118	chr15:30284290-30284291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540781264	chr15:30284295-30284296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117240077	chr15:30284321-30284322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192124746	chr15:30284358-30284359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185743155	chr15:30284359-30284360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574642754	chr15:30284379-30284380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541744212	chr15:30284381-30284382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536263241	chr15:30284385-30284386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:152)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
Prader-willi syndrome	21504564	CNVD
The inv dup or idic syndrome	19019226	CNVD
Prader-willi syndrome	21233802	CNVD
Angelman syndrome	16617304	CNVD
Angelman syndrome	20970697	CNVD
Autism	22958593	CNVD
Prader-willi syndrome	16617304	CNVD
Prader-willi syndrome	18923514	CNVD
Prader-willi syndrome	20970697	CNVD
Angelman syndrome	16183798	CNVD
Angelman syndrome	18923514	CNVD
Prader-willi syndrome	22241247	CNVD
Epilepsy	20970697	CNVD
Autism	20970697	CNVD
Autism	19935738	CNVD
Autism	22930557	CNVD
Autism	19966786	CNVD
Autism	18923514	CNVD
Autism	18925931	CNVD
Autism	18835857	CNVD
Prader-willi syndrome	18835857	CNVD
Prader-willi syndrome	22152151	CNVD
Autism	22241247	CNVD
15q-syndrome	21725066	CNVD
Prader-willi syndrome	21503198	CNVD
Autism	21956041	CNVD
Prader-willi syndrome	16760730	CNVD
Prader-willi syndrome	22470819	CNVD
prenatal diagnosis	20453657	CNVD
Prader-willi syndrome	17867985	CNVD
Angelman syndrome	21072004	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
Hodgkin''s lymphoma	18641027	CNVD
Prader-willi syndrome	18781185	CNVD
Melanoma	18172304	CNVD
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	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
Gastrointestinal stromal cancer	20818650	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Schizophrenia	19197363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Angelman syndrome	18787571	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Abnormal corpus callosum	21572526	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Autism	20531469	CNVD
Neuropsychiatric disorder	20506139	CNVD
Austim spectrum disorder	21302340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Mental retardation	17124404	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	19843651	CNVD
Schizophrenia	19843651	CNVD
Schizophrenia	23813976	CNVD
Cognitive impairment	21505072	CNVD
Autism	22543975	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495309	CNVD
Schizophrenia	20388499	CNVD
Epilepsy	22499536	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Mental retardation	21956041	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Autism	21269290	CNVD
Intellectual disability	21269290	CNVD
Schizophrenia	21269290	CNVD
Colorectal cancer	21128281	CNVD
Epilepsy	19289393	CNVD
Epilepsy	20643615	CNVD
Mental retardation	19289393	CNVD
Mental retardation	20152051	CNVD
Schizophrenia	19289393	CNVD
dysmorphic features	19289393	CNVD
idiopathic epilepsies	19341504	CNVD
idiopathic generalized epilepsy	19592580	CNVD
idiopathic generalized epilepsy	19136953	CNVD
Autism	22094647	CNVD
Developmental delay	19898479	CNVD
Mental retardation	18278044	CNVD
Mental retardation	19898479	CNVD
Prader-willi syndrome	18854863	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164919	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30277800-30283400	Weak transcription	Brain Angular Gyrus	brain
2	chr15:30280800-30286000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr15:30281200-30283600	Enhancers	Brain Hippocampus Middle	brain
4	chr15:30281400-30283600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr15:30281400-30293600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr15:30282000-30285800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr15:30282000-30285800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr15:30282400-30286000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr15:30282600-30285600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr15:30282600-30292600	Weak transcription	Brain Substantia Nigra	brain
11	chr15:30283000-30283600	Enhancers	Hela-S3	cervix
12	chr15:30283400-30283600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:30283400-30283600	Enhancers	Brain Angular Gyrus	brain
14	chr15:30283600-30283800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr15:30283600-30285600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:30283600-30293000	Weak transcription	Brain Hippocampus Middle	brain
17	chr15:30285600-30286600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:30285600-30286600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr15:30285800-30286200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr15:30285800-30286400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr15:30285800-30286600	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links