Variant report

Variant	nsv960867
Chromosome Location	chr19:53677686-53681542
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 179 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532329100	chr19:53677732-53677733	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550429502	chr19:53677767-53677768	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548139049	chr19:53677818-53677819	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566472964	chr19:53677857-53677858	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568524544	chr19:53677858-53677859	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545505177	chr19:53677929-53677930	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150685128	chr19:53677969-53677970	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs55767003	chr19:53677978-53677979	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374592925	chr19:53677982-53677983	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184331252	chr19:53678049-53678050	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs188648376	chr19:53678084-53678085	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs578102519	chr19:53678085-53678086	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs545392017	chr19:53678124-53678125	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs557646437	chr19:53678133-53678134	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs144576671	chr19:53678193-53678194	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs147876775	chr19:53678209-53678210	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs139970713	chr19:53678211-53678212	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs61156701	chr19:53678232-53678233	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs528605694	chr19:53678236-53678237	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs397940167	chr19:53678243-53678244	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs374683824	chr19:53678244-53678245	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs181766498	chr19:53678372-53678373	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs150019329	chr19:53678385-53678386	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs145555253	chr19:53678421-53678422	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs374169278	chr19:53678430-53678431	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs148869655	chr19:53678505-53678506	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs112941329	chr19:53678568-53678569	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs369464660	chr19:53678586-53678587	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs75067138	chr19:53678605-53678606	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs550462893	chr19:53678630-53678631	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs79131937	chr19:53678658-53678659	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs200205628	chr19:53678668-53678669	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs80042365	chr19:53678674-53678675	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs369778289	chr19:53678693-53678694	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs372741529	chr19:53678714-53678715	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs377197349	chr19:53678730-53678731	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs370109452	chr19:53678734-53678735	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs143559625	chr19:53678735-53678736	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs538663862	chr19:53678745-53678746	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs376420963	chr19:53678746-53678747	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs199747280	chr19:53678761-53678762	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs374548324	chr19:53678782-53678783	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs146504762	chr19:53678796-53678797	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs372493765	chr19:53678803-53678804	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs141117052	chr19:53678841-53678842	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs373897910	chr19:53678845-53678846	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs181136298	chr19:53678868-53678869	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs557609672	chr19:53678870-53678871	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs576042075	chr19:53678894-53678895	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs575700570	chr19:53678904-53678905	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53664800-53695400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:53668800-53683000	Weak transcription	Pancreas	Pancrea
3	chr19:53669400-53685800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:53669400-53695600	Weak transcription	Brain Germinal Matrix	brain
5	chr19:53669600-53682800	Weak transcription	Left Ventricle	heart
6	chr19:53669600-53682800	Weak transcription	Osteobl	bone
7	chr19:53670000-53695400	Weak transcription	Right Ventricle	heart
8	chr19:53670200-53695200	Weak transcription	Fetal Brain Female	brain
9	chr19:53670600-53682800	Weak transcription	Dnd41	blood
10	chr19:53672200-53686400	Weak transcription	Colon Smooth Muscle	Colon
11	chr19:53673400-53679200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr19:53673600-53678600	Weak transcription	Aorta	Aorta
13	chr19:53673600-53688200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:53674000-53681000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr19:53674000-53682800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr19:53674000-53695400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr19:53674000-53695600	Weak transcription	Brain Angular Gyrus	brain
18	chr19:53674000-53695600	Weak transcription	Brain Anterior Caudate	brain
19	chr19:53674200-53693600	Weak transcription	Brain Hippocampus Middle	brain
20	chr19:53674200-53693600	Weak transcription	Fetal Muscle Leg	muscle
21	chr19:53675200-53682400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr19:53676600-53693600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr19:53676800-53677800	Strong transcription	Ovary	ovary
24	chr19:53676800-53678600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:53677000-53677800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:53677000-53677800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
27	chr19:53677000-53678000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:53677000-53678000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr19:53677000-53678000	ZNF genes & repeats	NHDF-Ad	bronchial
30	chr19:53677000-53679000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr19:53677000-53679200	ZNF genes & repeats	Primary T cells from cord blood	blood
32	chr19:53677000-53681600	ZNF genes & repeats	Primary B cells from cord blood	blood
33	chr19:53677200-53677800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
34	chr19:53677200-53677800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:53677200-53678000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
36	chr19:53677200-53685800	Weak transcription	Fetal Stomach	stomach
37	chr19:53677400-53682800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr19:53677400-53685000	Weak transcription	Placenta	Placenta
39	chr19:53677600-53682600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr19:53677600-53682600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr19:53677600-53682800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr19:53677600-53682800	Weak transcription	Adipose Nuclei	Adipose
43	chr19:53677600-53683000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr19:53677600-53686400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr19:53677600-53695600	Weak transcription	Fetal Lung	lung
46	chr19:53677800-53678000	ZNF genes & repeats	Thymus	Thymus
47	chr19:53677800-53682000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr19:53677800-53682600	Weak transcription	Ovary	ovary
49	chr19:53678000-53682000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:53678000-53682000	Weak transcription	NHDF-Ad	bronchial

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