Variant report

Variant	esv2557530
Chromosome Location	chr15:42406526-42407943
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	chr15:42407343..42409321-chr15:42417002..42418957,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11379833	chr15:42406567-42406568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs5812211	chr15:42406568-42406569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552345684	chr15:42406608-42406609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs600957	chr15:42406617-42406618	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs8023346	chr15:42406644-42406645	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs8042280	chr15:42406661-42406662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs143482088	chr15:42406719-42406720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568182439	chr15:42406764-42406765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186373531	chr15:42406797-42406798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199576710	chr15:42406854-42406855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs137937563	chr15:42406861-42406862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577456813	chr15:42406882-42406883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74614321	chr15:42406927-42406928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539059721	chr15:42406952-42406953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556846164	chr15:42406953-42406954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191682651	chr15:42406954-42406955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78414226	chr15:42406970-42406971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559367186	chr15:42406972-42406973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79094975	chr15:42407052-42407053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541551713	chr15:42407063-42407064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183585990	chr15:42407094-42407095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577990814	chr15:42407095-42407096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144625920	chr15:42407134-42407135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562784897	chr15:42407135-42407136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563198438	chr15:42407136-42407137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs58905750	chr15:42407166-42407167	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs34539019	chr15:42407175-42407176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138756938	chr15:42407216-42407217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188919619	chr15:42407300-42407301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547497515	chr15:42407325-42407326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190866329	chr15:42407408-42407409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532982365	chr15:42407416-42407417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78258182	chr15:42407442-42407443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182361842	chr15:42407453-42407454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535717998	chr15:42407493-42407494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11070360	chr15:42407536-42407537	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs565963314	chr15:42407565-42407566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534905217	chr15:42407570-42407571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558274066	chr15:42407577-42407578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77533324	chr15:42407587-42407588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528354984	chr15:42407613-42407614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537457553	chr15:42407673-42407674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557365446	chr15:42407679-42407680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372760309	chr15:42407701-42407702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74011727	chr15:42407757-42407758	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs542179192	chr15:42407760-42407761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs776710	chr15:42407766-42407767	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs377566189	chr15:42407826-42407827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572250941	chr15:42407831-42407832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540858143	chr15:42407896-42407897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
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
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
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42403600-42406800	Weak transcription	Stomach Mucosa	stomach
2	chr15:42405000-42407800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr15:42405000-42411400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr15:42405200-42410600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr15:42406800-42407800	Enhancers	Stomach Mucosa	stomach
6	chr15:42407800-42408200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr15:42407800-42410800	Weak transcription	Stomach Mucosa	stomach

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