Variant report

Variant	esv3511773
Chromosome Location	chr19:40622667-40626454
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	chr19:40475093..40477810-chr19:40625856..40627495,2	K562	blood:
2	chr10:22791038..22791735-chr19:40625635..40626306,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000013275	chromatin interactions

Extended variants
information (count: 123 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545843322	chr19:40622682-40622683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534082993	chr19:40622698-40622699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183185010	chr19:40622710-40622711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188706487	chr19:40622749-40622750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192522723	chr19:40622789-40622790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184961481	chr19:40622815-40622816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140389224	chr19:40622823-40622824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74268419	chr19:40622825-40622826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144990478	chr19:40622855-40622856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144536418	chr19:40622863-40622864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544848640	chr19:40622898-40622899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562556703	chr19:40622905-40622906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533065737	chr19:40622973-40622974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551063555	chr19:40623011-40623012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566469377	chr19:40623038-40623039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540822349	chr19:40623064-40623065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148467012	chr19:40623068-40623069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559791591	chr19:40623086-40623087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs58622948	chr19:40623096-40623097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs370737511	chr19:40623097-40623098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567248765	chr19:40623144-40623145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375512636	chr19:40623148-40623149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549579389	chr19:40623150-40623151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377165028	chr19:40623183-40623184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547215398	chr19:40623230-40623231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568980269	chr19:40623249-40623250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539945812	chr19:40623256-40623257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544217796	chr19:40623277-40623278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557832292	chr19:40623296-40623297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573175000	chr19:40623321-40623322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565437085	chr19:40623348-40623349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533966961	chr19:40623349-40623350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556092056	chr19:40623358-40623359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367717968	chr19:40623480-40623481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574426061	chr19:40623521-40623522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189577116	chr19:40623606-40623607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371369390	chr19:40623695-40623696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376283135	chr19:40623706-40623707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28403530	chr19:40623895-40623896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28490181	chr19:40623900-40623901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369221868	chr19:40624018-40624019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373721548	chr19:40624056-40624057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375581314	chr19:40624067-40624068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28680560	chr19:40624124-40624125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28668677	chr19:40624173-40624174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28668183	chr19:40624210-40624211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28529654	chr19:40624230-40624231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530281679	chr19:40624270-40624271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371956015	chr19:40624271-40624272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369435479	chr19:40624300-40624301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Anaplastic thyroid cancer	18753363	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40621000-40623000	Enhancers	HepG2	liver
2	chr19:40623000-40625600	Weak transcription	HepG2	liver
3	chr19:40625600-40627000	Enhancers	HepG2	liver

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