Variant report

Variant	nsv514778
Chromosome Location	chr15:42404108-42407388
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: 135 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578242922	chr15:42404142-42404143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547201998	chr15:42404155-42404156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373603110	chr15:42404186-42404187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188952107	chr15:42404200-42404201	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs146016147	chr15:42404233-42404234	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs139975850	chr15:42404236-42404237	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs552549359	chr15:42404238-42404239	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs630080	chr15:42404265-42404266	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs608360	chr15:42404266-42404267	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs79348622	chr15:42404271-42404272	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs538233430	chr15:42404313-42404314	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs191399428	chr15:42404314-42404315	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs143365225	chr15:42404317-42404318	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs183584167	chr15:42404347-42404348	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs16972675	chr15:42404355-42404356	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs187172782	chr15:42404387-42404388	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs191656802	chr15:42404396-42404397	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs558612726	chr15:42404488-42404489	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs8030796	chr15:42404514-42404515	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs544175212	chr15:42404533-42404534	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs184681785	chr15:42404536-42404537	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs530384910	chr15:42404561-42404562	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs190017486	chr15:42404564-42404565	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs560625852	chr15:42404574-42404575	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs532727902	chr15:42404601-42404602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116422354	chr15:42404602-42404603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569312581	chr15:42404650-42404651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79596356	chr15:42404651-42404652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs8032387	chr15:42404719-42404720	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs77803971	chr15:42404728-42404729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536095705	chr15:42404818-42404819	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552759050	chr15:42404862-42404863	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144573490	chr15:42404870-42404871	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538825119	chr15:42404882-42404883	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199772548	chr15:42404905-42404906	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181647238	chr15:42404913-42404914	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116238507	chr15:42404917-42404918	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543882954	chr15:42404924-42404925	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185637614	chr15:42404954-42404955	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374989196	chr15:42404998-42404999	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2677756	chr15:42405035-42405036	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs569781549	chr15:42405062-42405063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56040775	chr15:42405079-42405080	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs558547306	chr15:42405107-42405108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148738404	chr15:42405127-42405128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560762164	chr15:42405132-42405133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577393976	chr15:42405135-42405136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62002303	chr15:42405152-42405153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546361281	chr15:42405153-42405154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60513852	chr15:42405155-42405156	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42396200-42404200	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr15:42396200-42405200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr15:42400000-42404200	Weak transcription	Esophagus	oesophagus
4	chr15:42400600-42404400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr15:42401000-42405000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr15:42401200-42405000	Enhancers	Fetal Thymus	thymus
7	chr15:42402200-42405000	Enhancers	Dnd41	blood
8	chr15:42402800-42405000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:42403600-42406800	Weak transcription	Stomach Mucosa	stomach
10	chr15:42403800-42404800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:42403800-42405000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr15:42404000-42405000	Enhancers	Primary hematopoietic stem cells	blood
13	chr15:42404200-42404400	Enhancers	Esophagus	oesophagus
14	chr15:42404200-42404600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr15:42404400-42405200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr15:42404600-42405000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr15:42404800-42405000	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
18	chr15:42405000-42407800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr15:42405000-42411400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr15:42405200-42410600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr15:42406800-42407800	Enhancers	Stomach Mucosa	stomach

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