Variant report

Variant	esv2761878
Chromosome Location	chr15:75384227-75385650
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	chr15:75380896..75383442-chr15:75385564..75387083,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8034281	chr15:75384227-75384228	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551958013	chr15:75384233-75384234	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs563166123	chr15:75384283-75384284	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs115288098	chr15:75384329-75384330	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs12148697	chr15:75384375-75384376	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs12148708	chr15:75384397-75384398	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs139186442	chr15:75384536-75384537	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs534894429	chr15:75384563-75384564	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs148591381	chr15:75384564-75384565	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs546829010	chr15:75384597-75384598	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs142993848	chr15:75384627-75384628	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs535601607	chr15:75384660-75384661	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs117715598	chr15:75384702-75384703	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs575563873	chr15:75384719-75384720	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs564080492	chr15:75384722-75384723	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs8038911	chr15:75384768-75384769	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs183166391	chr15:75384828-75384829	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs577175151	chr15:75384832-75384833	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs541316295	chr15:75384864-75384865	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs369137262	chr15:75384874-75384875	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs61534586	chr15:75384901-75384902	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs58035675	chr15:75384903-75384904	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs36050973	chr15:75384911-75384912	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs6495149	chr15:75384952-75384953	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs534998261	chr15:75384962-75384963	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs574571299	chr15:75384966-75384967	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs541599582	chr15:75385009-75385010	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs563353456	chr15:75385010-75385011	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs530424767	chr15:75385056-75385057	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs368356798	chr15:75385153-75385154	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs187696221	chr15:75385165-75385166	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs562430308	chr15:75385182-75385183	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs77282328	chr15:75385281-75385282	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs139488459	chr15:75385312-75385313	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs4886655	chr15:75385568-75385569	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs192415154	chr15:75385611-75385612	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs7162941	chr15:75385622-75385623	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs202237412	chr15:75385633-75385634	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs547122962	chr15:75385638-75385639	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Epilepsy	22083797	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75382800-75396600	Weak transcription	Spleen	Spleen
2	chr15:75383200-75397200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:75383600-75386000	Weak transcription	Fetal Brain Male	brain
4	chr15:75384000-75384400	Enhancers	Primary B cells from cord blood	blood
5	chr15:75384000-75384400	Enhancers	HSMM	muscle
6	chr15:75384000-75385000	Enhancers	Primary B cells from peripheral blood	blood
7	chr15:75384000-75386000	ZNF genes & repeats	GM12878-XiMat	blood
8	chr15:75384200-75384400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:75384400-75387000	Weak transcription	Primary B cells from cord blood	blood
10	chr15:75384400-75391000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr15:75385000-75386800	Weak transcription	Primary B cells from peripheral blood	blood

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