Variant report

Variant	nsv978838
Chromosome Location	chr19:52579083-52580474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYA	chr19:52579162-52579322	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:52579224-52579529	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:52580250-52580332	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:52579868-52580036	K562	blood:	n/a	n/a
5	POLR2A	chr19:52578378-52579400	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52577623..52579187-chr19:52581297..52583798,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF432-1	chr19:52579297-52579642	NONHSAT067513

Variant related genes	Relation type
ZNF841	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561463447	chr19:52579087-52579088	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs528836751	chr19:52579143-52579144	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs571913880	chr19:52579238-52579239	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs181050237	chr19:52579247-52579248	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs565543298	chr19:52579248-52579249	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs370201812	chr19:52579268-52579269	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs144690937	chr19:52579298-52579299	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
8	rs375319177	chr19:52579315-52579316	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
9	rs28706645	chr19:52579317-52579318	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs372086918	chr19:52579362-52579363	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
11	rs200386268	chr19:52579443-52579444	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
12	rs377051208	chr19:52579447-52579448	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
13	rs185161581	chr19:52579458-52579459	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
14	rs189490844	chr19:52579473-52579474	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
15	rs7359836	chr19:52579509-52579510	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs7359993	chr19:52579512-52579513	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs112668310	chr19:52579542-52579543	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
18	rs533692246	chr19:52579582-52579583	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
19	rs563254412	chr19:52579597-52579598	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
20	rs570693897	chr19:52579633-52579634	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
21	rs538694905	chr19:52579641-52579642	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
22	rs557305204	chr19:52579687-52579688	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs575854704	chr19:52579760-52579761	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs543135163	chr19:52579781-52579782	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs114662684	chr19:52579809-52579810	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs35136245	chr19:52579903-52579904	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs181809577	chr19:52579946-52579947	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs187123426	chr19:52579960-52579961	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs9676397	chr19:52580003-52580004	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs532818747	chr19:52580009-52580010	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs543916369	chr19:52580041-52580042	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs562132977	chr19:52580050-52580051	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs117617163	chr19:52580065-52580066	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs191984184	chr19:52580093-52580094	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs559790579	chr19:52580104-52580105	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs36026377	chr19:52580173-52580174	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs375159392	chr19:52580217-52580218	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs368816405	chr19:52580221-52580222	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs140121641	chr19:52580247-52580248	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs377342679	chr19:52580309-52580310	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs538140572	chr19:52580364-52580365	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs550740232	chr19:52580371-52580372	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs183415827	chr19:52580401-52580402	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs76702199	chr19:52580453-52580454	Weak transcription Strong transcription ZNF genes & repeats	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
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52561000-52597400	ZNF genes & repeats	Liver	Liver
2	chr19:52561000-52597600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:52561200-52586200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:52562800-52579800	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:52562800-52580200	ZNF genes & repeats	Fetal Brain Female	brain
6	chr19:52562800-52581200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:52562800-52595400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:52562800-52597400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr19:52563000-52581600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr19:52563200-52586600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
11	chr19:52563200-52586600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
12	chr19:52563600-52580400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr19:52563600-52581800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
14	chr19:52563600-52597400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:52563800-52597200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:52564800-52596200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
17	chr19:52565000-52581400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr19:52565200-52581200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:52565400-52581200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr19:52565400-52581400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr19:52565400-52581400	ZNF genes & repeats	Primary T cells from cord blood	blood
22	chr19:52565400-52597200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:52566600-52581400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
24	chr19:52566800-52581600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
25	chr19:52567600-52581600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
26	chr19:52567600-52581600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
27	chr19:52567600-52581600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
28	chr19:52568800-52581200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
29	chr19:52568800-52581400	ZNF genes & repeats	Primary B cells from cord blood	blood
30	chr19:52568800-52588800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
31	chr19:52569200-52581400	ZNF genes & repeats	GM12878-XiMat	blood
32	chr19:52569200-52581800	ZNF genes & repeats	Colonic Mucosa	Colon
33	chr19:52569400-52581800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
34	chr19:52570400-52580000	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr19:52571600-52591600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
36	chr19:52572000-52581200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
37	chr19:52572800-52581400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr19:52574200-52581800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr19:52574200-52597600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr19:52574600-52594200	Strong transcription	Stomach Smooth Muscle	stomach
41	chr19:52575200-52593000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr19:52575200-52596400	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr19:52575800-52580600	ZNF genes & repeats	Fetal Stomach	stomach
44	chr19:52575800-52581200	Strong transcription	Fetal Brain Male	brain
45	chr19:52575800-52581400	ZNF genes & repeats	Fetal Intestine Large	intestine
46	chr19:52575800-52581400	ZNF genes & repeats	Small Intestine	intestine
47	chr19:52575800-52581600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr19:52575800-52581800	ZNF genes & repeats	Fetal Intestine Small	intestine
49	chr19:52575800-52581800	ZNF genes & repeats	Ovary	ovary
50	chr19:52576000-52579200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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