Variant report

Variant	nsv978839
Chromosome Location	chr19:52876302-52877614
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52875265..52876916-chr19:52889763..52892567,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540656180	chr19:52876313-52876314	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7256723	chr19:52876317-52876318	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs200427935	chr19:52876355-52876356	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374062914	chr19:52876375-52876376	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7256752	chr19:52876384-52876385	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs14048	chr19:52876385-52876386	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
7	rs548085078	chr19:52876392-52876393	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375671601	chr19:52876394-52876395	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7256760	chr19:52876400-52876401	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs369606256	chr19:52876404-52876405	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201475417	chr19:52876445-52876446	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372343871	chr19:52876447-52876448	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73934441	chr19:52876464-52876465	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs11396	chr19:52876483-52876484	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184441337	chr19:52876501-52876502	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569276332	chr19:52876514-52876515	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146884365	chr19:52876518-52876519	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371745299	chr19:52876541-52876542	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188806195	chr19:52876549-52876550	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569075625	chr19:52876569-52876570	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371718482	chr19:52876605-52876606	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs573460605	chr19:52876628-52876629	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs540849640	chr19:52876669-52876670	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs181218359	chr19:52876680-52876681	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs576840344	chr19:52876690-52876691	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs202079773	chr19:52876691-52876692	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs543984479	chr19:52876719-52876720	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs140474922	chr19:52876739-52876740	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs144207406	chr19:52876758-52876759	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs541703801	chr19:52876771-52876772	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs146562283	chr19:52876780-52876781	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs186271646	chr19:52876795-52876796	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs188989534	chr19:52876867-52876868	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs199875095	chr19:52876918-52876919	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs200998049	chr19:52876919-52876920	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs35788651	chr19:52876922-52876923	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs564134890	chr19:52876937-52876938	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs532592073	chr19:52876941-52876942	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs71180448	chr19:52876945-52876946	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs75907862	chr19:52876946-52876947	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs548899913	chr19:52876950-52876951	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs141295269	chr19:52877002-52877003	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs536680311	chr19:52877031-52877032	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs150229310	chr19:52877049-52877050	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs567142062	chr19:52877061-52877062	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs369733202	chr19:52877070-52877071	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs112578332	chr19:52877075-52877076	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs112039289	chr19:52877076-52877077	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs182431041	chr19:52877081-52877082	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs112504234	chr19:52877082-52877083	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52871200-52876400	Weak transcription	Dnd41	blood
2	chr19:52873600-52888400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
3	chr19:52873800-52877600	Weak transcription	Aorta	Aorta
4	chr19:52873800-52877600	Weak transcription	Gastric	stomach
5	chr19:52873800-52885000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
6	chr19:52874000-52876400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr19:52874000-52876400	Weak transcription	Colonic Mucosa	Colon
8	chr19:52874000-52879000	Weak transcription	Stomach Mucosa	stomach
9	chr19:52874000-52887200	ZNF genes & repeats	Fetal Intestine Large	intestine
10	chr19:52874200-52876400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:52874200-52876400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:52874200-52876400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr19:52874200-52876400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:52874200-52876400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr19:52874200-52876400	Weak transcription	Brain Angular Gyrus	brain
16	chr19:52874200-52876400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr19:52874200-52876400	Weak transcription	Pancreas	Pancrea
18	chr19:52874200-52876400	Weak transcription	Psoas Muscle	Psoas
19	chr19:52874200-52876400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr19:52874200-52876400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr19:52874200-52876400	Weak transcription	HSMM	muscle
22	chr19:52874200-52877800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr19:52874200-52880200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr19:52874200-52882200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr19:52874200-52886200	Weak transcription	HUVEC	blood vessel
26	chr19:52874200-52886800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr19:52874400-52876400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr19:52874400-52876400	Weak transcription	NHDF-Ad	bronchial
29	chr19:52874600-52877600	Weak transcription	Fetal Brain Male	brain
30	chr19:52874800-52880200	Weak transcription	Fetal Heart	heart
31	chr19:52875200-52876400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr19:52875200-52876400	Weak transcription	Brain Hippocampus Middle	brain
33	chr19:52875200-52876400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr19:52875200-52876400	Weak transcription	HSMMtube	muscle
35	chr19:52875200-52877200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr19:52875200-52877600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:52875200-52884600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
38	chr19:52875400-52876400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:52875400-52876400	Weak transcription	Placenta	Placenta
40	chr19:52875400-52876400	Weak transcription	Fetal Stomach	stomach
41	chr19:52875400-52876400	Weak transcription	Thymus	Thymus
42	chr19:52875400-52876600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr19:52875400-52877600	Strong transcription	Fetal Muscle Trunk	muscle
44	chr19:52875600-52888600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
45	chr19:52876000-52879000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:52876000-52884800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
47	chr19:52876200-52876600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
48	chr19:52876200-52876600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr19:52876200-52876600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr19:52876200-52876600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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