Variant report

Variant	esv3406350
Chromosome Location	chr15:50377385-50380658
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	chr15:50365547..50368039-chr15:50379457..50381521,2	MCF-7	breast:

Extended variants
information (count: 145 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373746192	chr15:50377396-50377397	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs147520402	chr15:50377427-50377428	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs530749677	chr15:50377459-50377460	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs573937015	chr15:50377520-50377521	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs78468057	chr15:50377532-50377533	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs117024549	chr15:50377533-50377534	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs562308415	chr15:50377544-50377545	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs78046139	chr15:50377574-50377575	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs532326017	chr15:50377576-50377577	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs547495174	chr15:50377583-50377584	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs145501760	chr15:50377620-50377621	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs151118429	chr15:50377657-50377658	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375854283	chr15:50377703-50377704	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570115004	chr15:50377706-50377707	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537760561	chr15:50377707-50377708	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559245401	chr15:50377712-50377713	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576916640	chr15:50377738-50377739	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534644107	chr15:50377749-50377750	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577586311	chr15:50377750-50377751	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114228986	chr15:50377753-50377754	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574501961	chr15:50377761-50377762	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141084480	chr15:50377824-50377825	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563514484	chr15:50377825-50377826	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73400842	chr15:50377848-50377849	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs189585515	chr15:50377849-50377850	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564002244	chr15:50377859-50377860	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570071698	chr15:50377875-50377876	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528363215	chr15:50377905-50377906	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547819441	chr15:50377952-50377953	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559468229	chr15:50377959-50377960	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560226603	chr15:50377961-50377962	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530226246	chr15:50377999-50378000	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548363198	chr15:50378000-50378001	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370106369	chr15:50378025-50378026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201829458	chr15:50378066-50378067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149780161	chr15:50378069-50378070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370026746	chr15:50378073-50378074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373146457	chr15:50378074-50378075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199924853	chr15:50378080-50378081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12903162	chr15:50378106-50378107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193056104	chr15:50378107-50378108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12904511	chr15:50378108-50378109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12903169	chr15:50378132-50378133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12904529	chr15:50378134-50378135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs8027793	chr15:50378144-50378145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373129384	chr15:50378152-50378153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12904686	chr15:50378160-50378161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75284088	chr15:50378174-50378175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377113940	chr15:50378175-50378176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369331215	chr15:50378176-50378177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	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
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50367200-50380600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr15:50367400-50381600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr15:50368000-50380800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr15:50373800-50377800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:50374400-50378000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr15:50375000-50377600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:50375200-50377400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr15:50376800-50377600	Enhancers	K562	blood
9	chr15:50376800-50386200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr15:50377400-50380400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:50377600-50378000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:50377800-50379800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:50378000-50380400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr15:50378000-50380400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:50379800-50381200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:50380400-50380600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:50380400-50381000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr15:50380400-50381000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr15:50380600-50381000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr15:50380600-50381200	Enhancers	Primary monocytes fromperipheralblood	blood

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