Variant report

Variant	esv3362389
Chromosome Location	chr15:41174769-41175091
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41148133..41159834-chr15:41169228..41175193,12	MCF-7	breast:
2	chr15:41168787..41171767-chr15:41172329..41175308,2	MCF-7	breast:
3	chr15:41171533..41175197-chr15:41185717..41188518,3	K562	blood:

Variant related genes	Relation type
ENSG00000104142	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28808306	chr15:41174778-41174779	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34861137	chr15:41174830-41174831	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs398118783	chr15:41174832-41174833	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs575144719	chr15:41174833-41174834	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs58756253	chr15:41174840-41174841	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs546215557	chr15:41174870-41174871	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs564421203	chr15:41174929-41174930	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs528709396	chr15:41174939-41174940	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs617377	chr15:41174971-41174972	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs537185958	chr15:41174979-41174980	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs555909459	chr15:41174980-41174981	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs533871724	chr15:41174988-41174989	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs199531824	chr15:41174989-41174990	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs58692287	chr15:41174998-41174999	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs569538914	chr15:41175032-41175033	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs535696924	chr15:41175036-41175037	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs555384448	chr15:41175038-41175039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs59926990	chr15:41175046-41175047	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs676460	chr15:41175049-41175050	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs202083421	chr15:41175050-41175051	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs11070302	chr15:41175053-41175054	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs557816018	chr15:41175055-41175056	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs577777887	chr15:41175057-41175058	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs543564390	chr15:41175069-41175070	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs11070303	chr15:41175070-41175071	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:69)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
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
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	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
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	21510904	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41172000-41184000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr15:41172600-41175200	Weak transcription	Stomach Mucosa	stomach
3	chr15:41174600-41176800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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