Variant report

Variant	esv275383
Chromosome Location	chr15:54810814-54814852
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	chr15:54812666..54814961-chr15:54822160..54825055,2	MCF-7	breast:

Extended variants
information (count: 173 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188093057	chr15:54810845-54810846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528389033	chr15:54810887-54810888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115179151	chr15:54810911-54810912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180907419	chr15:54810917-54810918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7182083	chr15:54810922-54810923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142986893	chr15:54810959-54810960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376456912	chr15:54810968-54810969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186319456	chr15:54810995-54810996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28537662	chr15:54811067-54811068	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs192383639	chr15:54811090-54811091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs578244916	chr15:54811094-54811095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112304820	chr15:54811133-54811134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184002642	chr15:54811167-54811168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77027669	chr15:54811168-54811169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186905822	chr15:54811169-54811170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563524981	chr15:54811192-54811193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs626236	chr15:54811196-54811197	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs544626079	chr15:54811313-54811314	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs371052712	chr15:54811333-54811334	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs202033628	chr15:54811345-54811346	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs369034873	chr15:54811369-54811370	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs538230813	chr15:54811383-54811384	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs563701	chr15:54811384-54811385	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs545947008	chr15:54811415-54811416	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs561547889	chr15:54811439-54811440	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs368616969	chr15:54811445-54811446	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs559119136	chr15:54811447-54811448	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs559264861	chr15:54811449-54811450	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs74363191	chr15:54811469-54811470	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs541752666	chr15:54811480-54811481	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs561690058	chr15:54811517-54811518	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs530387166	chr15:54811555-54811556	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs550166196	chr15:54811588-54811589	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs575247098	chr15:54811595-54811596	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs373443523	chr15:54811603-54811604	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs151107390	chr15:54811613-54811614	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs532900621	chr15:54811631-54811632	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs141063726	chr15:54811639-54811640	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs563345443	chr15:54811643-54811644	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs566930580	chr15:54811684-54811685	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs118011464	chr15:54811813-54811814	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs143780207	chr15:54811850-54811851	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs1402111	chr15:54811851-54811852	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs538213791	chr15:54811853-54811854	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs78493113	chr15:54811874-54811875	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs146831507	chr15:54811879-54811880	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs540627292	chr15:54811888-54811889	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs75065634	chr15:54811893-54811894	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs554286834	chr15:54811920-54811921	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs75852652	chr15:54811922-54811923	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	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
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54807000-54820600	Weak transcription	Fetal Brain Male	brain
2	chr15:54809000-54814000	Weak transcription	Ovary	ovary
3	chr15:54809600-54811200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:54809600-54811200	Enhancers	Fetal Intestine Small	intestine
5	chr15:54809600-54811200	Enhancers	Fetal Kidney	kidney
6	chr15:54809600-54811800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:54809600-54814400	Enhancers	Fetal Lung	lung
8	chr15:54809800-54811600	Enhancers	Primary hematopoietic stem cells	blood
9	chr15:54809800-54811800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr15:54810200-54812000	Enhancers	Adipose Nuclei	Adipose
11	chr15:54810400-54811000	Enhancers	Aorta	Aorta
12	chr15:54810600-54811000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:54810600-54811000	Enhancers	Colon Smooth Muscle	Colon
14	chr15:54810600-54811000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr15:54810600-54811200	Enhancers	Brain Hippocampus Middle	brain
16	chr15:54810800-54811000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr15:54810800-54811200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:54810800-54811200	Enhancers	GM12878-XiMat	blood
19	chr15:54810800-54811400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr15:54811000-54811600	Enhancers	Primary T cells from cord blood	blood
21	chr15:54811000-54812200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr15:54811000-54812600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr15:54811000-54869600	Weak transcription	Aorta	Aorta
24	chr15:54811200-54811400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr15:54811200-54811600	Weak transcription	Fetal Kidney	kidney
26	chr15:54811200-54811600	Weak transcription	GM12878-XiMat	blood
27	chr15:54811200-54811800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr15:54811200-54812400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:54811400-54811600	Enhancers	Primary B cells from cord blood	blood
30	chr15:54811400-54812000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr15:54811400-54812200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr15:54811600-54811800	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr15:54811600-54811800	Enhancers	Fetal Kidney	kidney
34	chr15:54811600-54812000	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr15:54811600-54812000	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr15:54811600-54812200	Active TSS	Monocytes-CD14+_RO01746	blood
37	chr15:54811600-54812400	Enhancers	GM12878-XiMat	blood
38	chr15:54811800-54812000	Active TSS	Primary B cells from cord blood	blood
39	chr15:54811800-54812000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr15:54811800-54812200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr15:54811800-54812400	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr15:54811800-54812600	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr15:54811800-54812800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr15:54811800-54813800	Weak transcription	Fetal Kidney	kidney
45	chr15:54812000-54812200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr15:54812000-54812200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr15:54812000-54812400	Enhancers	Primary B cells from cord blood	blood
48	chr15:54812000-54813000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr15:54812000-54813200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr15:54812000-54813600	Enhancers	Primary T cells from cord blood	blood

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