Variant report

Variant	nsv819209
Chromosome Location	chr19:37369348-37370260
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	chr19:37328191..37330014-chr19:37367737..37370320,2	MCF-7	breast:
2	chr19:37368925..37371871-chr19:37383138..37385642,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197863	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185864842	chr19:37369371-37369372	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs7259042	chr19:37369378-37369379	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs191421113	chr19:37369380-37369381	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs534001871	chr19:37369436-37369437	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs555023	chr19:37369454-37369455	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576810009	chr19:37369481-37369482	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs181850010	chr19:37369489-37369490	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs544642262	chr19:37369496-37369497	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs10709788	chr19:37369526-37369527	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs397859584	chr19:37369535-37369536	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs7256044	chr19:37369543-37369544	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs368685872	chr19:37369590-37369591	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs536076121	chr19:37369608-37369609	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs75247927	chr19:37369628-37369629	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs545711507	chr19:37369658-37369659	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs186903245	chr19:37369674-37369675	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs376380936	chr19:37369789-37369790	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs543393666	chr19:37369808-37369809	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs141550089	chr19:37369809-37369810	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs569363964	chr19:37369827-37369828	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs76536114	chr19:37369832-37369833	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs558168684	chr19:37369887-37369888	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs559411328	chr19:37369901-37369902	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs12151333	chr19:37369924-37369925	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs547993073	chr19:37369942-37369943	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs375006645	chr19:37369974-37369975	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs563395730	chr19:37369990-37369991	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs530959410	chr19:37370001-37370002	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs552279380	chr19:37370007-37370008	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs570858551	chr19:37370038-37370039	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs372590574	chr19:37370067-37370068	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs377240115	chr19:37370096-37370097	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs534983456	chr19:37370248-37370249	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37344400-37369400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr19:37344400-37371600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:37344400-37406400	ZNF genes & repeats	Liver	Liver
4	chr19:37344600-37371600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr19:37346400-37404600	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr19:37346600-37372400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr19:37348800-37372000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
8	chr19:37353400-37405000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:37353600-37371200	ZNF genes & repeats	Fetal Brain Female	brain
10	chr19:37357800-37371600	ZNF genes & repeats	Brain Hippocampus Middle	brain
11	chr19:37358600-37370800	ZNF genes & repeats	Primary T cells from cord blood	blood
12	chr19:37359800-37371000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr19:37359800-37371600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
14	chr19:37360000-37371200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
15	chr19:37360000-37373000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:37360200-37370600	ZNF genes & repeats	Brain Anterior Caudate	brain
17	chr19:37360200-37371000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr19:37360200-37371200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr19:37360200-37372400	ZNF genes & repeats	Brain Substantia Nigra	brain
20	chr19:37360600-37371000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr19:37361400-37371400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
22	chr19:37361800-37369400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
23	chr19:37361800-37369400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
24	chr19:37361800-37371200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:37361800-37371200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
26	chr19:37362400-37371000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr19:37362600-37371000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr19:37362800-37371000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr19:37362800-37371600	ZNF genes & repeats	Brain Germinal Matrix	brain
30	chr19:37363000-37369400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
31	chr19:37363000-37371600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
32	chr19:37363000-37372000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
33	chr19:37363200-37369600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
34	chr19:37363200-37371600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
35	chr19:37364200-37371000	ZNF genes & repeats	Colon Smooth Muscle	Colon
36	chr19:37364400-37369800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
37	chr19:37364400-37371600	ZNF genes & repeats	Ovary	ovary
38	chr19:37365000-37370000	ZNF genes & repeats	Left Ventricle	heart
39	chr19:37365600-37371200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
40	chr19:37365800-37369400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
41	chr19:37365800-37371600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
42	chr19:37366000-37369400	ZNF genes & repeats	Primary B cells from cord blood	blood
43	chr19:37366000-37369600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:37366000-37370800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
45	chr19:37366000-37371000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
46	chr19:37366000-37371200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
47	chr19:37366000-37371400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
48	chr19:37366000-37371600	ZNF genes & repeats	Fetal Lung	lung
49	chr19:37366200-37371000	ZNF genes & repeats	Dnd41	blood
50	chr19:37366400-37371000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum

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