Variant report

Variant	nsv961202
Chromosome Location	chr19:23516052-23517106
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528639405	chr19:23516058-23516059	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186918336	chr19:23516076-23516077	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547291950	chr19:23516087-23516088	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191335176	chr19:23516099-23516100	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184194041	chr19:23516201-23516202	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs56396629	chr19:23516223-23516224	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs189903155	chr19:23516259-23516260	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530265971	chr19:23516281-23516282	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548656358	chr19:23516335-23516336	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115131404	chr19:23516373-23516374	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534483503	chr19:23516404-23516405	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs295404	chr19:23516417-23516418	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs571478668	chr19:23516489-23516490	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143318797	chr19:23516521-23516522	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11085575	chr19:23516613-23516614	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556577186	chr19:23516614-23516615	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574888613	chr19:23516640-23516641	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529168211	chr19:23516723-23516724	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548928982	chr19:23516758-23516759	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371565709	chr19:23516771-23516772	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181125790	chr19:23516788-23516789	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147548177	chr19:23516790-23516791	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs29983	chr19:23516817-23516818	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs532897564	chr19:23516837-23516838	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112218891	chr19:23516853-23516854	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562874160	chr19:23516879-23516880	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531389285	chr19:23516887-23516888	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530076370	chr19:23516950-23516951	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185473859	chr19:23516973-23516974	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372278428	chr19:23517023-23517024	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs137894257	chr19:23517043-23517044	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs295403	chr19:23517046-23517047	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs143452617	chr19:23517067-23517068	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538591655	chr19:23517079-23517080	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	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
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23494400-23518200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:23500400-23516600	Weak transcription	Right Ventricle	heart
3	chr19:23506000-23522000	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:23506000-23548400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:23506400-23522200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:23506600-23518400	Weak transcription	Brain Substantia Nigra	brain
7	chr19:23507400-23516600	Weak transcription	Placenta	Placenta
8	chr19:23508200-23517000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:23508400-23518200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr19:23508400-23518400	Weak transcription	Colon Smooth Muscle	Colon
11	chr19:23508600-23518400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr19:23510800-23522600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
13	chr19:23511000-23522800	ZNF genes & repeats	Fetal Lung	lung
14	chr19:23511000-23523400	ZNF genes & repeats	Liver	Liver
15	chr19:23511200-23518200	Weak transcription	Colonic Mucosa	Colon
16	chr19:23512000-23522000	ZNF genes & repeats	Fetal Brain Female	brain
17	chr19:23512000-23523400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:23512200-23521400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:23512400-23520000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr19:23512400-23540400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr19:23512400-23548400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:23512600-23516200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:23512600-23516600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr19:23512600-23519600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr19:23512600-23520000	ZNF genes & repeats	Ovary	ovary
26	chr19:23512800-23516400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr19:23513200-23517200	Strong transcription	Rectal Smooth Muscle	rectum
28	chr19:23513200-23517400	Strong transcription	HSMM	muscle
29	chr19:23513200-23570400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr19:23513400-23517000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr19:23513400-23518000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr19:23513400-23522200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
33	chr19:23513600-23527400	Weak transcription	Osteobl	bone
34	chr19:23513800-23517000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
35	chr19:23513800-23517400	ZNF genes & repeats	Primary B cells from cord blood	blood
36	chr19:23513800-23520400	ZNF genes & repeats	Brain Germinal Matrix	brain
37	chr19:23513800-23521800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr19:23514000-23516400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr19:23514200-23517200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
40	chr19:23514200-23519000	Strong transcription	Stomach Smooth Muscle	stomach
41	chr19:23514200-23519600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
42	chr19:23514200-23519800	ZNF genes & repeats	Aorta	Aorta
43	chr19:23514200-23521000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
44	chr19:23514400-23518200	Weak transcription	HSMMtube	muscle
45	chr19:23514400-23518600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr19:23514400-23519000	Weak transcription	Fetal Heart	heart
47	chr19:23514600-23516600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr19:23514600-23518400	Weak transcription	Brain Angular Gyrus	brain
49	chr19:23515000-23517200	ZNF genes & repeats	Brain Anterior Caudate	brain
50	chr19:23515000-23520000	ZNF genes & repeats	Fetal Muscle Leg	muscle

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