Variant report

Variant	esv2439220
Chromosome Location	chr15:35135585-35137390
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573370308	chr15:35135588-35135589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62006142	chr15:35135615-35135616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs559655133	chr15:35135644-35135645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs151240863	chr15:35135673-35135674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375947509	chr15:35135676-35135677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564986831	chr15:35135711-35135712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541526416	chr15:35135712-35135713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs55926502	chr15:35135730-35135731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113698337	chr15:35135733-35135734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559592362	chr15:35135764-35135765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533132927	chr15:35135822-35135823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548221109	chr15:35135896-35135897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551670190	chr15:35135910-35135911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140891801	chr15:35135976-35135977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530557083	chr15:35135977-35135978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182787227	chr15:35136062-35136063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149741286	chr15:35136120-35136121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188954968	chr15:35136141-35136142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75447055	chr15:35136155-35136156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546239171	chr15:35136158-35136159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193228860	chr15:35136170-35136171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549528347	chr15:35136171-35136172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538812042	chr15:35136195-35136196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557668458	chr15:35136203-35136204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12912939	chr15:35136222-35136223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575824532	chr15:35136237-35136238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536695772	chr15:35136246-35136247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs8030719	chr15:35136247-35136248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs573234405	chr15:35136267-35136268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140339125	chr15:35136353-35136354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377187571	chr15:35136361-35136362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201498968	chr15:35136428-35136429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559060945	chr15:35136440-35136441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199806843	chr15:35136443-35136444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538877256	chr15:35136524-35136525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs8035446	chr15:35136616-35136617	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs530708498	chr15:35136629-35136630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542869060	chr15:35136668-35136669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183568254	chr15:35136679-35136680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528046078	chr15:35136681-35136682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532884429	chr15:35136718-35136719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11629482	chr15:35136745-35136746	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs386782944	chr15:35136836-35136837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187400744	chr15:35136837-35136838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74009736	chr15:35136838-35136839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532593855	chr15:35136911-35136912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550889849	chr15:35136963-35136964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540033469	chr15:35137094-35137095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs137939600	chr15:35137105-35137106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191851220	chr15:35137114-35137115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:35128800-35142400	Weak transcription	Pancreas	Pancrea
2	chr15:35129200-35147600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr15:35130000-35145600	Weak transcription	A549	lung
4	chr15:35130200-35147800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:35130400-35147600	Weak transcription	NHLF	lung
6	chr15:35133200-35141400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:35134000-35141400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr15:35134000-35145200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr15:35134000-35145600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr15:35134000-35147400	Weak transcription	NHDF-Ad	bronchial
11	chr15:35134600-35147600	Weak transcription	HSMM	muscle
12	chr15:35134800-35136600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr15:35134800-35147400	Weak transcription	Fetal Muscle Leg	muscle
14	chr15:35136600-35138200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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