Variant report

Variant	esv3374404
Chromosome Location	chr19:38072959-38073379
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	chr19:38071504..38073615-chr19:38074702..38076775,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180479	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544071384	chr19:38073008-38073009	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs149373528	chr19:38073037-38073038	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs117093286	chr19:38073056-38073057	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs187625544	chr19:38073068-38073069	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs189604820	chr19:38073094-38073095	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs116748644	chr19:38073098-38073099	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs73033117	chr19:38073146-38073147	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs567855310	chr19:38073193-38073194	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs538479946	chr19:38073212-38073213	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs75707352	chr19:38073233-38073234	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs117242854	chr19:38073237-38073238	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs10153500	chr19:38073267-38073268	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs182634974	chr19:38073326-38073327	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572907517	chr19:38073359-38073360	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21240255	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38032400-38080800	ZNF genes & repeats	Liver	Liver
2	chr19:38032600-38075200	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:38038000-38078400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:38038600-38079600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:38041200-38079600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:38045000-38078600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:38046600-38079600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
8	chr19:38047400-38078600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
9	chr19:38049200-38079600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr19:38051600-38077600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
11	chr19:38051600-38078800	ZNF genes & repeats	Fetal Brain Female	brain
12	chr19:38052200-38075200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
13	chr19:38052200-38078600	ZNF genes & repeats	Primary B cells from cord blood	blood
14	chr19:38053200-38078200	ZNF genes & repeats	Brain Germinal Matrix	brain
15	chr19:38053200-38078600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:38053400-38078400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
17	chr19:38059800-38078000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr19:38065200-38078800	ZNF genes & repeats	Colon Smooth Muscle	Colon
19	chr19:38065800-38078400	ZNF genes & repeats	Primary T cells from cord blood	blood
20	chr19:38065800-38078600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr19:38067000-38077200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:38068200-38078200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
23	chr19:38068400-38073200	Weak transcription	HSMMtube	muscle
24	chr19:38068400-38073400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
25	chr19:38068400-38078000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
26	chr19:38068400-38078200	ZNF genes & repeats	Fetal Muscle Leg	muscle
27	chr19:38068400-38078400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr19:38068400-38078600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr19:38068400-38078800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
30	chr19:38068600-38075000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr19:38068600-38075000	ZNF genes & repeats	Thymus	Thymus
32	chr19:38068600-38076600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
33	chr19:38068600-38077600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
34	chr19:38068600-38078200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
35	chr19:38068600-38078400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
36	chr19:38068600-38080000	ZNF genes & repeats	Ovary	ovary
37	chr19:38068600-38080800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chr19:38068800-38075000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr19:38068800-38075200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
40	chr19:38068800-38075200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
41	chr19:38068800-38078200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
42	chr19:38068800-38079800	ZNF genes & repeats	Dnd41	blood
43	chr19:38069200-38079600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
44	chr19:38069400-38073600	Strong transcription	Right Ventricle	heart
45	chr19:38069600-38077800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
46	chr19:38069800-38084600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr19:38070000-38075200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr19:38070200-38075200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:38070200-38076200	Weak transcription	Stomach Mucosa	stomach
50	chr19:38070400-38077800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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