Variant report

Variant	nsv819782
Chromosome Location	chr19:44517906-44519375
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44507222..44510776-chr19:44517439..44520079,4	MCF-7	breast:
2	chr19:44508681..44513697-chr19:44514534..44518037,6	K562	blood:
3	chr19:44516780..44518514-chr19:44607954..44609959,2	K562	blood:

Variant related genes	Relation type
ENSG00000267680	chromatin interactions
ENSG00000159882	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540950039	chr19:44517948-44517949	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs376317424	chr19:44517954-44517955	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs535955353	chr19:44518000-44518001	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs10404784	chr19:44518016-44518017	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs551955567	chr19:44518019-44518020	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs371995468	chr19:44518043-44518044	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs543333604	chr19:44518066-44518067	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs62119173	chr19:44518073-44518074	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs576903464	chr19:44518111-44518112	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs148103385	chr19:44518124-44518125	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs372394226	chr19:44518132-44518133	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs537638246	chr19:44518150-44518151	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs528126934	chr19:44518151-44518152	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs182359433	chr19:44518182-44518183	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs368737716	chr19:44518195-44518196	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs562106339	chr19:44518220-44518221	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs143916205	chr19:44518233-44518234	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs537562547	chr19:44518286-44518287	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs556017028	chr19:44518290-44518291	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs557880856	chr19:44518291-44518292	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs548375673	chr19:44518307-44518308	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs533147696	chr19:44518332-44518333	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs546551566	chr19:44518521-44518522	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs566864237	chr19:44518538-44518539	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs535552464	chr19:44518545-44518546	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs147291946	chr19:44518584-44518585	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs540077069	chr19:44518606-44518607	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs62119174	chr19:44518607-44518608	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs186590915	chr19:44518649-44518650	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs374621758	chr19:44518698-44518699	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs376222999	chr19:44518724-44518725	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs573683354	chr19:44518725-44518726	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs189667915	chr19:44518731-44518732	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs180915141	chr19:44518754-44518755	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs116958055	chr19:44518770-44518771	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs117861904	chr19:44518791-44518792	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs562365060	chr19:44518812-44518813	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs541544725	chr19:44518818-44518819	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs140937130	chr19:44518886-44518887	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs531984779	chr19:44518910-44518911	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs531010146	chr19:44518933-44518934	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs544444902	chr19:44518966-44518967	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs545724032	chr19:44518979-44518980	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs185576465	chr19:44519043-44519044	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs572788885	chr19:44519123-44519124	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs144858567	chr19:44519156-44519157	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs546914865	chr19:44519157-44519158	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs147530534	chr19:44519259-44519260	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs529314087	chr19:44519267-44519268	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs139435052	chr19:44519345-44519346	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44509200-44520600	ZNF genes & repeats	Liver	Liver
2	chr19:44509400-44518200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:44515400-44518600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:44515400-44529000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr19:44515800-44518400	Weak transcription	Fetal Stomach	stomach
6	chr19:44516400-44518000	Weak transcription	Placenta	Placenta
7	chr19:44516400-44518200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr19:44516400-44518400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:44516400-44518800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr19:44516400-44519200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:44516400-44519800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr19:44516600-44518000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr19:44516800-44518000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:44516800-44518200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr19:44516800-44519000	Weak transcription	Fetal Brain Male	brain
16	chr19:44516800-44519600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr19:44516800-44519600	Weak transcription	Fetal Kidney	kidney
18	chr19:44517000-44528600	Weak transcription	Dnd41	blood
19	chr19:44517200-44518000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr19:44517200-44518600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr19:44517200-44520000	Weak transcription	Left Ventricle	heart
22	chr19:44517200-44520200	Weak transcription	HSMM	muscle
23	chr19:44517200-44521600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:44517400-44520800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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