Variant report

Variant	nsv960863
Chromosome Location	chr19:52934700-52938305
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 237 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:237 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368652731	chr19:52934729-52934730	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs193921143	chr19:52934740-52934741	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs118147154	chr19:52934741-52934742	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs73588012	chr19:52934751-52934752	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs547433098	chr19:52934753-52934754	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs182463730	chr19:52934776-52934777	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs73588013	chr19:52934778-52934779	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs532365867	chr19:52934779-52934780	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs545505413	chr19:52934785-52934786	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs563661138	chr19:52934855-52934856	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs530932712	chr19:52934856-52934857	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs549151123	chr19:52934890-52934891	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs567661022	chr19:52934910-52934911	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs113487087	chr19:52934911-52934912	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs73588015	chr19:52934919-52934920	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs571473552	chr19:52934965-52934966	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs538879914	chr19:52934972-52934973	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs556995936	chr19:52935000-52935001	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs201189034	chr19:52935006-52935007	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs568904315	chr19:52935045-52935046	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs376094169	chr19:52935063-52935064	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs527939527	chr19:52935069-52935070	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs34798906	chr19:52935071-52935072	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs554224384	chr19:52935087-52935088	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs111968503	chr19:52935108-52935109	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs372006217	chr19:52935110-52935111	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs572876920	chr19:52935117-52935118	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs189123125	chr19:52935137-52935138	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs558929488	chr19:52935138-52935139	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs577093630	chr19:52935176-52935177	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs544128027	chr19:52935180-52935181	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs16983806	chr19:52935181-52935182	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs575608846	chr19:52935190-52935191	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs543112226	chr19:52935309-52935310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193022060	chr19:52935310-52935311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73934465	chr19:52935322-52935323	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs16983808	chr19:52935364-52935365	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs73588017	chr19:52935466-52935467	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs532913016	chr19:52935481-52935482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532563225	chr19:52935488-52935489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs16983810	chr19:52935519-52935520	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs569440978	chr19:52935543-52935544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115087724	chr19:52935586-52935587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377599279	chr19:52935683-52935684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116906964	chr19:52935743-52935744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570711771	chr19:52935754-52935755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566462677	chr19:52935788-52935789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533801564	chr19:52935793-52935794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138323106	chr19:52935821-52935822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577253136	chr19:52935830-52935831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Adrenocortical carcinoma	18281524	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Cancer	20164920	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52923400-52939800	Weak transcription	Right Ventricle	heart
2	chr19:52926000-52938200	Weak transcription	Psoas Muscle	Psoas
3	chr19:52927400-52941200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr19:52929000-52941400	Weak transcription	Brain Substantia Nigra	brain
5	chr19:52930000-52941400	Weak transcription	Brain Hippocampus Middle	brain
6	chr19:52930400-52938200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr19:52931600-52937600	Weak transcription	Brain Angular Gyrus	brain
8	chr19:52932800-52934800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr19:52932800-52938400	Weak transcription	Ovary	ovary
10	chr19:52933200-52935000	Strong transcription	Brain Anterior Caudate	brain
11	chr19:52933600-52935800	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr19:52933800-52935200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
13	chr19:52934400-52935200	ZNF genes & repeats	Left Ventricle	heart
14	chr19:52934400-52938400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr19:52934800-52935200	Strong transcription	Brain Inferior Temporal Lobe	brain
16	chr19:52935000-52938400	Weak transcription	Brain Anterior Caudate	brain
17	chr19:52935200-52937000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr19:52935200-52938400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr19:52935200-52938600	Weak transcription	Left Ventricle	heart
20	chr19:52935800-52937200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr19:52936800-52939000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
22	chr19:52937000-52939000	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr19:52937000-52939000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
24	chr19:52937200-52941200	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr19:52937600-52938800	Strong transcription	Brain Angular Gyrus	brain
26	chr19:52938000-52939000	ZNF genes & repeats	Adipose Nuclei	Adipose
27	chr19:52938200-52938600	Strong transcription	Stomach Smooth Muscle	stomach
28	chr19:52938200-52938800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr19:52938200-52938800	ZNF genes & repeats	Psoas Muscle	Psoas

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