Variant report

Variant	nsv1066190
Chromosome Location	chr19:36830299-36852877
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	chr19:36848342..36851339-chr19:37018243..37021228,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254004	chromatin interactions
ENSG00000228629	chromatin interactions

Extended variants
information (count: 794 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561544328	chr19:36830326-36830327	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73928793	chr19:36830340-36830341	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs544455930	chr19:36830347-36830348	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562759476	chr19:36830498-36830499	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533333842	chr19:36830509-36830510	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13346636	chr19:36830571-36830572	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs371056391	chr19:36830584-36830585	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560604869	chr19:36830608-36830609	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534378191	chr19:36830618-36830619	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117042114	chr19:36830619-36830620	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571646638	chr19:36830627-36830628	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567797645	chr19:36830633-36830634	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534159574	chr19:36830656-36830657	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138187618	chr19:36830662-36830663	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550414850	chr19:36830676-36830677	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142777499	chr19:36830713-36830714	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200562546	chr19:36830725-36830726	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75308843	chr19:36830726-36830727	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200829117	chr19:36830730-36830731	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs398101197	chr19:36830731-36830732	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539072891	chr19:36830773-36830774	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73602365	chr19:36830774-36830775	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs180878505	chr19:36830837-36830838	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372101945	chr19:36830884-36830885	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10419508	chr19:36830905-36830906	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs555282591	chr19:36830941-36830942	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573746301	chr19:36831063-36831064	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562613394	chr19:36831092-36831093	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185869114	chr19:36831102-36831103	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143635886	chr19:36831182-36831183	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376811820	chr19:36831204-36831205	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556452062	chr19:36831233-36831234	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371140483	chr19:36831292-36831293	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs8110644	chr19:36831372-36831373	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs374147775	chr19:36831411-36831412	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377194014	chr19:36831466-36831467	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545462128	chr19:36831483-36831484	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202179952	chr19:36831540-36831541	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571512137	chr19:36831575-36831576	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370356503	chr19:36831589-36831590	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139225970	chr19:36831616-36831617	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373801795	chr19:36831624-36831625	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368590564	chr19:36831677-36831678	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367637837	chr19:36831709-36831710	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201566504	chr19:36831764-36831765	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375496169	chr19:36831765-36831766	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551082039	chr19:36831842-36831843	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372447154	chr19:36831866-36831867	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200966885	chr19:36831902-36831903	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183556226	chr19:36831917-36831918	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Pleomorphic liposarcoma	18784837	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
Ovarian cancer	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:818 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36823400-36830400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:36823600-36831400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:36823800-36853600	ZNF genes & repeats	Liver	Liver
4	chr19:36824600-36838000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr19:36825000-36836600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:36826600-36840000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
7	chr19:36827000-36831800	Weak transcription	Fetal Stomach	stomach
8	chr19:36827200-36839800	ZNF genes & repeats	Primary T cells from cord blood	blood
9	chr19:36827200-36840000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr19:36827200-36841600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr19:36827200-36844200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:36827200-36862200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:36827400-36833800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr19:36827400-36836800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:36827400-36839800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
16	chr19:36827400-36840000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
17	chr19:36827400-36843400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
18	chr19:36827600-36832400	ZNF genes & repeats	Primary B cells from cord blood	blood
19	chr19:36828400-36832600	ZNF genes & repeats	A549	lung
20	chr19:36829400-36832200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
21	chr19:36829400-36832400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr19:36829400-36832800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr19:36829800-36832600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
24	chr19:36829800-36834000	ZNF genes & repeats	Brain Hippocampus Middle	brain
25	chr19:36830000-36832400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
26	chr19:36830000-36832400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr19:36830000-36832400	ZNF genes & repeats	Brain Anterior Caudate	brain
28	chr19:36830000-36832400	ZNF genes & repeats	Brain Germinal Matrix	brain
29	chr19:36830000-36832400	ZNF genes & repeats	Fetal Kidney	kidney
30	chr19:36830000-36832400	ZNF genes & repeats	Fetal Lung	lung
31	chr19:36830000-36832600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:36830000-36832600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
33	chr19:36830000-36832600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
34	chr19:36830000-36832600	ZNF genes & repeats	Dnd41	blood
35	chr19:36830000-36834800	ZNF genes & repeats	Adipose Nuclei	Adipose
36	chr19:36830200-36830600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr19:36830200-36830600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
38	chr19:36830200-36830600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr19:36830200-36830600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr19:36830200-36830600	ZNF genes & repeats	Ovary	ovary
41	chr19:36830200-36830600	ZNF genes & repeats	Pancreas	Pancrea
42	chr19:36830200-36830800	ZNF genes & repeats	Esophagus	oesophagus
43	chr19:36830200-36830800	ZNF genes & repeats	Right Ventricle	heart
44	chr19:36830200-36831400	ZNF genes & repeats	Psoas Muscle	Psoas
45	chr19:36830200-36832200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
46	chr19:36830200-36832200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:36830200-36832200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
48	chr19:36830200-36832200	ZNF genes & repeats	Left Ventricle	heart
49	chr19:36830200-36832400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr19:36830200-36832400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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