Variant report

Variant	esv3312450
Chromosome Location	chr15:54890485-54893511
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143303245	chr15:54890527-54890528	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549743860	chr15:54890536-54890537	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569910966	chr15:54890544-54890545	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538528070	chr15:54890549-54890550	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146688002	chr15:54890554-54890555	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191845716	chr15:54890570-54890571	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534652518	chr15:54890582-54890583	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542791321	chr15:54890583-54890584	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535095760	chr15:54890643-54890644	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184071642	chr15:54890721-54890722	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574484275	chr15:54890784-54890785	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs58408360	chr15:54890806-54890807	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs74853879	chr15:54890843-54890844	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372826807	chr15:54890908-54890909	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577386909	chr15:54890928-54890929	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575580116	chr15:54890984-54890985	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187349129	chr15:54891017-54891018	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559621370	chr15:54891036-54891037	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192331980	chr15:54891072-54891073	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541859277	chr15:54891124-54891125	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369805856	chr15:54891156-54891157	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530937029	chr15:54891174-54891175	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546163652	chr15:54891192-54891193	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551074987	chr15:54891213-54891214	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569715581	chr15:54891308-54891309	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150969151	chr15:54891333-54891334	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370254596	chr15:54891338-54891339	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182624631	chr15:54891412-54891413	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552498268	chr15:54891435-54891436	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114850631	chr15:54891474-54891475	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140261297	chr15:54891475-54891476	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554635477	chr15:54891500-54891501	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568072138	chr15:54891522-54891523	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536715328	chr15:54891573-54891574	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10152979	chr15:54891667-54891668	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs563315112	chr15:54891670-54891671	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546033084	chr15:54891682-54891683	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2947000	chr15:54891699-54891700	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs77849743	chr15:54891715-54891716	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10152907	chr15:54891716-54891717	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs372613938	chr15:54891724-54891725	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575609604	chr15:54891737-54891738	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2414327	chr15:54891816-54891817	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187287019	chr15:54891847-54891848	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532198814	chr15:54891968-54891969	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9920919	chr15:54892000-54892001	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs551345943	chr15:54892019-54892020	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373472827	chr15:54892065-54892066	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559666230	chr15:54892074-54892075	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571100875	chr15:54892147-54892148	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54887600-54892800	Strong transcription	Fetal Heart	heart
2	chr15:54890400-54890800	Enhancers	Fetal Muscle Trunk	muscle
3	chr15:54892800-54894400	Weak transcription	Fetal Heart	heart

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