Variant report

Variant	esv3397433
Chromosome Location	chr15:41491010-41493058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 70 )

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	rs9972623	chr15:41491027-41491028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs143751767	chr15:41491077-41491078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187489413	chr15:41491231-41491232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145916252	chr15:41491261-41491262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561582938	chr15:41491277-41491278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561200224	chr15:41491278-41491279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547336342	chr15:41491280-41491281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570660924	chr15:41491306-41491307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561799853	chr15:41491307-41491308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528974483	chr15:41491345-41491346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191721318	chr15:41491374-41491375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183811706	chr15:41491375-41491376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535576631	chr15:41491400-41491401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531950070	chr15:41491446-41491447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115238697	chr15:41491465-41491466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535234115	chr15:41491486-41491487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558451402	chr15:41491522-41491523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9972345	chr15:41491532-41491533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs559870671	chr15:41491547-41491548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533009370	chr15:41491592-41491593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9972349	chr15:41491656-41491657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs11852986	chr15:41491689-41491690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566689673	chr15:41491708-41491709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113340271	chr15:41491794-41491795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs398118787	chr15:41491800-41491801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9672334	chr15:41491838-41491839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9672335	chr15:41491840-41491841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9672342	chr15:41491847-41491848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9672415	chr15:41491848-41491849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9672343	chr15:41491856-41491857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9672366	chr15:41491858-41491859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376869819	chr15:41491863-41491864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367672576	chr15:41491887-41491888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371870604	chr15:41491895-41491896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375804198	chr15:41491897-41491898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369982639	chr15:41491898-41491899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373122475	chr15:41491903-41491904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369152385	chr15:41491904-41491905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546702114	chr15:41491905-41491906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375057768	chr15:41491906-41491907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111464470	chr15:41491912-41491913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369341573	chr15:41491921-41491922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376834936	chr15:41491926-41491927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373352128	chr15:41491927-41491928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372809032	chr15:41491928-41491929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371338541	chr15:41491930-41491931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542754260	chr15:41491932-41491933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370139736	chr15:41491936-41491937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12902448	chr15:41491937-41491938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373166704	chr15:41491938-41491939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Acute lymphoblastic leukemia	18458336	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41484400-41494400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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