Variant report

Variant	esv2469327
Chromosome Location	chr19:37283790-37285325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561170925	chr19:37283867-37283868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142589471	chr19:37283871-37283872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371921390	chr19:37283893-37283894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150955439	chr19:37283951-37283952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200166215	chr19:37283995-37283996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187185035	chr19:37284079-37284080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375197482	chr19:37284085-37284086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552774575	chr19:37284125-37284126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553486410	chr19:37284178-37284179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113870300	chr19:37284179-37284180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140569678	chr19:37284193-37284194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112583636	chr19:37284245-37284246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565686373	chr19:37284261-37284262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535838960	chr19:37284282-37284283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141840898	chr19:37284335-37284336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554153367	chr19:37284431-37284432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200480094	chr19:37284624-37284625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201775848	chr19:37284625-37284626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199497454	chr19:37284626-37284627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200584520	chr19:37284627-37284628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145774483	chr19:37284671-37284672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189303588	chr19:37284689-37284690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138490680	chr19:37284699-37284700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141392112	chr19:37284724-37284725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540913598	chr19:37284733-37284734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553421329	chr19:37284749-37284750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574995555	chr19:37284750-37284751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181014924	chr19:37284842-37284843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149592472	chr19:37284873-37284874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377610609	chr19:37284874-37284875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60288454	chr19:37284877-37284878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563692604	chr19:37284885-37284886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369215224	chr19:37284928-37284929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559291268	chr19:37284942-37284943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74174435	chr19:37284944-37284945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200950765	chr19:37284945-37284946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140268962	chr19:37284960-37284961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369870739	chr19:37284964-37284965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548431473	chr19:37285001-37285002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375216767	chr19:37285009-37285010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534121209	chr19:37285044-37285045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2695086	chr19:37285053-37285054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs373474074	chr19:37285061-37285062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190354667	chr19:37285116-37285117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528685004	chr19:37285118-37285119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546920949	chr19:37285129-37285130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3927989	chr19:37285148-37285149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1726702	chr19:37285187-37285188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs566876574	chr19:37285198-37285199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114377725	chr19:37285209-37285210	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Pleomorphic liposarcoma	18784837	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
Disorders of sex development	21048976	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
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37282400-37283800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr19:37282600-37286200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:37282600-37287800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:37283000-37287600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:37283200-37287400	Weak transcription	Right Ventricle	heart
6	chr19:37285200-37285800	ZNF genes & repeats	Liver	Liver

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