Variant report

Variant	nsv828651
Chromosome Location	chr19:57067322-57068066
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575288786	chr19:57067336-57067337	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12975138	chr19:57067354-57067355	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs559528613	chr19:57067355-57067356	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560910971	chr19:57067414-57067415	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530090316	chr19:57067420-57067421	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556208071	chr19:57067421-57067422	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559859465	chr19:57067486-57067487	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148648163	chr19:57067503-57067504	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs8109745	chr19:57067514-57067515	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs370307643	chr19:57067552-57067553	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528313404	chr19:57067577-57067578	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564845489	chr19:57067621-57067622	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142038937	chr19:57067664-57067665	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113415954	chr19:57067737-57067738	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537111849	chr19:57067856-57067857	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550681398	chr19:57067935-57067936	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550749256	chr19:57067954-57067955	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs151143575	chr19:57067956-57067957	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs15693	chr19:57067968-57067969	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192692207	chr19:57067976-57067977	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553430926	chr19:57067978-57067979	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530770416	chr19:57067989-57067990	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7258886	chr19:57068039-57068040	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs376736638	chr19:57068063-57068064	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
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
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:57047400-57077800	ZNF genes & repeats	Liver	Liver
2	chr19:57051200-57068000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:57051400-57068000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr19:57051400-57068000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr19:57051400-57068000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr19:57051400-57068000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr19:57051400-57070600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:57051600-57078000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr19:57052200-57070200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
10	chr19:57052400-57068000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr19:57052600-57067800	ZNF genes & repeats	Dnd41	blood
12	chr19:57054000-57068000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:57054800-57077800	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr19:57055000-57070800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:57055200-57068000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
16	chr19:57056200-57068000	ZNF genes & repeats	Brain Substantia Nigra	brain
17	chr19:57058200-57068200	ZNF genes & repeats	Colon Smooth Muscle	Colon
18	chr19:57058600-57068000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:57059000-57067800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr19:57059200-57067400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr19:57061200-57067800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr19:57061600-57070400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr19:57064000-57067800	ZNF genes & repeats	Brain Germinal Matrix	brain
24	chr19:57064000-57070800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
25	chr19:57064200-57067800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr19:57064200-57068000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
27	chr19:57064200-57068000	ZNF genes & repeats	Brain Hippocampus Middle	brain
28	chr19:57064200-57068000	ZNF genes & repeats	Fetal Brain Female	brain
29	chr19:57064400-57068000	ZNF genes & repeats	Psoas Muscle	Psoas
30	chr19:57064600-57067800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr19:57064600-57067800	ZNF genes & repeats	Aorta	Aorta
32	chr19:57064600-57068000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
33	chr19:57064600-57068000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
34	chr19:57064600-57068000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
35	chr19:57064600-57068000	ZNF genes & repeats	Left Ventricle	heart
36	chr19:57064600-57068000	ZNF genes & repeats	Ovary	ovary
37	chr19:57064600-57068000	ZNF genes & repeats	HSMMtube	muscle
38	chr19:57064800-57067600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
39	chr19:57064800-57068000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
40	chr19:57064800-57068000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
41	chr19:57066600-57068600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:57066800-57071000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr19:57067600-57067800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr19:57067600-57067800	ZNF genes & repeats	Fetal Lung	lung
45	chr19:57067800-57069400	Strong transcription	Brain Germinal Matrix	brain
46	chr19:57068000-57068800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr19:57068000-57069600	Weak transcription	HSMMtube	muscle
48	chr19:57068000-57069800	Weak transcription	Left Ventricle	heart

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