Variant report

Variant	esv1803471
Chromosome Location	chr15:42415151-42422571
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:
2	chr15:42420757..42423368-chr15:42423954..42427575,3	K562	blood:

Extended variants
information (count: 268 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs776711	chr15:42415151-42415152	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181434367	chr15:42415177-42415178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111595142	chr15:42415217-42415218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555412975	chr15:42415246-42415247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2034521	chr15:42415270-42415271	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs186379849	chr15:42415310-42415311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548026827	chr15:42415321-42415322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117875673	chr15:42415350-42415351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140045742	chr15:42415410-42415411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192217213	chr15:42415417-42415418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77672774	chr15:42415429-42415430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542569918	chr15:42415450-42415451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114084449	chr15:42415467-42415468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182728016	chr15:42415472-42415473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565511999	chr15:42415478-42415479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531103645	chr15:42415502-42415503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186068676	chr15:42415526-42415527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561424341	chr15:42415553-42415554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150300333	chr15:42415578-42415579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546924109	chr15:42415647-42415648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190623677	chr15:42415687-42415688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534880774	chr15:42415702-42415703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551242240	chr15:42415740-42415741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571157437	chr15:42415743-42415744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536841672	chr15:42415768-42415769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556649694	chr15:42415784-42415785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138083249	chr15:42415822-42415823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117546331	chr15:42415826-42415827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79359848	chr15:42415857-42415858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145924557	chr15:42415891-42415892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372895490	chr15:42415899-42415900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74755131	chr15:42415900-42415901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138789845	chr15:42415920-42415921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142815071	chr15:42415943-42415944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12912374	chr15:42415978-42415979	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs147258898	chr15:42416113-42416114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554277719	chr15:42416142-42416143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546691653	chr15:42416187-42416188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75188459	chr15:42416194-42416195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375625764	chr15:42416244-42416245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533673478	chr15:42416246-42416247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528468822	chr15:42416342-42416343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532370912	chr15:42416352-42416353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74551457	chr15:42416460-42416461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571171560	chr15:42416464-42416465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182730649	chr15:42416466-42416467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550723268	chr15:42416483-42416484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567266595	chr15:42416557-42416558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536382386	chr15:42416622-42416623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377756439	chr15:42416632-42416633	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42410800-42416000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr15:42411200-42415800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr15:42411600-42415800	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr15:42411600-42444200	Weak transcription	Right Atrium	heart
5	chr15:42414000-42415400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:42414600-42415600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr15:42415400-42415600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:42415800-42419600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr15:42419600-42419800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:42419600-42420000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr15:42419800-42429600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:42422000-42422600	Active TSS	GM12878-XiMat	blood
13	chr15:42422400-42423200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr15:42422400-42423400	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr15:42422400-42426200	Enhancers	Fetal Thymus	thymus

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