Variant report

Variant	esv3520789
Chromosome Location	chr10:23014898-23019504
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:23003493..23005808-chr10:23014761..23017222,2	MCF-7	breast:
2	chr10:23015053..23017126-chr10:23022696..23025104,2	MCF-7	breast:
3	chr10:23016693..23018672-chr10:23040807..23043389,2	K562	blood:
4	chr10:23016705..23019113-chr10:23023056..23025280,2	K562	blood:
5	chr10:23014598..23016365-chr10:23019653..23022054,2	K562	blood:
6	chr10:23000655..23003612-chr10:23018832..23020493,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150867	chromatin interactions

Extended variants
information (count: 150 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375122603	chr10:23014914-23014915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7070712	chr10:23014938-23014939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532860671	chr10:23015003-23015004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180977027	chr10:23015004-23015005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563124767	chr10:23015011-23015012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185214134	chr10:23015096-23015097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58687909	chr10:23015097-23015098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565594866	chr10:23015102-23015103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144400775	chr10:23015143-23015144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551131369	chr10:23015181-23015182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148793523	chr10:23015220-23015221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537133363	chr10:23015261-23015262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557365955	chr10:23015289-23015290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577520769	chr10:23015294-23015295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141645741	chr10:23015307-23015308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536603424	chr10:23015332-23015333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553713247	chr10:23015354-23015355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189640095	chr10:23015368-23015369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370311255	chr10:23015369-23015370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558864683	chr10:23015398-23015399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577704266	chr10:23015403-23015404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543144604	chr10:23015453-23015454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563345332	chr10:23015462-23015463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528864550	chr10:23015475-23015476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113332928	chr10:23015507-23015508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78097225	chr10:23015526-23015527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186847316	chr10:23015555-23015556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551195175	chr10:23015578-23015579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191861131	chr10:23015630-23015631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140445179	chr10:23015633-23015634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553208130	chr10:23015642-23015643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74334485	chr10:23015649-23015650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144315856	chr10:23015699-23015700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147785701	chr10:23015702-23015703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11592427	chr10:23015729-23015730	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs117655607	chr10:23015755-23015756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539325303	chr10:23015763-23015764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559148842	chr10:23015789-23015790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375758867	chr10:23015790-23015791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575158581	chr10:23015848-23015849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575749556	chr10:23015935-23015936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183313443	chr10:23015958-23015959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs72816876	chr10:23015968-23015969	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs573372380	chr10:23015974-23015975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565278167	chr10:23015978-23015979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369904935	chr10:23015980-23015981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76172501	chr10:23016003-23016004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558905855	chr10:23016019-23016020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577019123	chr10:23016075-23016076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189112237	chr10:23016123-23016124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:23004400-23016400	Weak transcription	Brain Anterior Caudate	brain
2	chr10:23004400-23017800	Weak transcription	Spleen	Spleen
3	chr10:23009800-23016600	Weak transcription	Brain Angular Gyrus	brain
4	chr10:23012600-23015800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:23014000-23015800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr10:23014000-23016000	Weak transcription	GM12878-XiMat	blood
7	chr10:23014000-23016600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr10:23014000-23017200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr10:23014600-23016400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr10:23015800-23016000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr10:23015800-23016400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr10:23015800-23017000	Enhancers	Primary B cells from peripheral blood	blood
13	chr10:23016000-23016600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr10:23016000-23016800	Enhancers	GM12878-XiMat	blood
15	chr10:23016200-23016400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr10:23016200-23016800	Enhancers	Brain Cingulate Gyrus	brain
17	chr10:23016400-23016800	Enhancers	Brain Anterior Caudate	brain
18	chr10:23016400-23016800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr10:23016400-23027600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr10:23016600-23016800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr10:23016600-23017000	Enhancers	Brain Angular Gyrus	brain
22	chr10:23016600-23018000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr10:23016800-23017000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr10:23016800-23017200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr10:23017200-23018200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr10:23017200-23018200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr10:23017600-23017800	Enhancers	Primary B cells from peripheral blood	blood
28	chr10:23017600-23017800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr10:23017800-23018000	Enhancers	Spleen	Spleen
30	chr10:23017800-23019400	Weak transcription	Stomach Mucosa	stomach
31	chr10:23019400-23020000	Enhancers	Stomach Mucosa	stomach

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