Variant report

Variant	esv1008640
Chromosome Location	chr15:93091542-93097709
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	chr15:93072512..93075082-chr15:93090546..93093036,2	K562	blood:

Extended variants
information (count: 219 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191334502	chr15:93091542-93091543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528663589	chr15:93091647-93091648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75033545	chr15:93091664-93091665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183214305	chr15:93091671-93091672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540179302	chr15:93091685-93091686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35657567	chr15:93091709-93091710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559915177	chr15:93091714-93091715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7176335	chr15:93091725-93091726	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs138110894	chr15:93091737-93091738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562320198	chr15:93091740-93091741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531446731	chr15:93091743-93091744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548265730	chr15:93091756-93091757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115927173	chr15:93091775-93091776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188617070	chr15:93091780-93091781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190336110	chr15:93091781-93091782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544134633	chr15:93091811-93091812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7181188	chr15:93091815-93091816	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs143580780	chr15:93091833-93091834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111476856	chr15:93091843-93091844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371489708	chr15:93091869-93091870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78248510	chr15:93091873-93091874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79117689	chr15:93091890-93091891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535980937	chr15:93091953-93091954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150239088	chr15:93092003-93092004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs67965083	chr15:93092004-93092005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574446366	chr15:93092011-93092012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35318732	chr15:93092021-93092022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs59908068	chr15:93092023-93092024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533665457	chr15:93092026-93092027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553711094	chr15:93092034-93092035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7176427	chr15:93092134-93092135	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs545686780	chr15:93092153-93092154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556076941	chr15:93092176-93092177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs16947050	chr15:93092184-93092185	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs541958074	chr15:93092220-93092221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561752293	chr15:93092225-93092226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7181967	chr15:93092231-93092232	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs547862903	chr15:93092250-93092251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541196183	chr15:93092336-93092337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564470713	chr15:93092358-93092359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140200552	chr15:93092359-93092360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370317148	chr15:93092393-93092394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550209931	chr15:93092396-93092397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374325979	chr15:93092397-93092398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570316744	chr15:93092484-93092485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs16947053	chr15:93092575-93092576	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs60589237	chr15:93092601-93092602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34289565	chr15:93092632-93092633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs28603150	chr15:93092635-93092636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs9920859	chr15:93092693-93092694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Acute myeloid leukemia	17237825	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93087800-93096200	Weak transcription	Pancreas	Pancrea
2	chr15:93090800-93092600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:93091400-93092200	Enhancers	Fetal Lung	lung

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