Variant report

Variant	esv3429817
Chromosome Location	chr19:37325705-37326081
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	chr19:37325206..37326948-chr19:37327588..37329435,2	MCF-7	breast:
2	chr19:37323948..37326050-chr19:37340760..37342851,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197863	chromatin interactions
ENSG00000251247	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151219801	chr19:37325711-37325712	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs557516806	chr19:37325752-37325753	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs556114706	chr19:37325762-37325763	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs534023318	chr19:37325808-37325809	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs574138722	chr19:37325811-37325812	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs555831129	chr19:37325822-37325823	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs12982205	chr19:37325826-37325827	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs544609272	chr19:37325830-37325831	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs556549588	chr19:37325915-37325916	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs559990423	chr19:37325917-37325918	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs545750355	chr19:37325922-37325923	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs374572468	chr19:37325980-37325981	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs527424831	chr19:37326016-37326017	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs562061474	chr19:37326034-37326035	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs368135379	chr19:37326047-37326048	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37287400-37327400	ZNF genes & repeats	Liver	Liver
2	chr19:37289200-37327000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr19:37289400-37327600	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:37289600-37327400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:37289600-37327400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr19:37292000-37328400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
7	chr19:37295000-37327200	ZNF genes & repeats	Fetal Lung	lung
8	chr19:37295600-37327200	ZNF genes & repeats	Fetal Brain Female	brain
9	chr19:37298200-37327000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:37298400-37328200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr19:37299400-37327000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr19:37300000-37327200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
13	chr19:37303000-37325800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:37303200-37325800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
15	chr19:37303200-37327800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr19:37303200-37327800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr19:37303200-37328000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr19:37303400-37327000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:37303800-37327000	ZNF genes & repeats	Brain Germinal Matrix	brain
20	chr19:37304200-37327400	ZNF genes & repeats	Dnd41	blood
21	chr19:37308400-37327400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr19:37308600-37327200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
23	chr19:37308600-37327600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr19:37309400-37325800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:37311000-37328200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:37312600-37328000	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr19:37315600-37325800	ZNF genes & repeats	Fetal Kidney	kidney
28	chr19:37318000-37327200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
29	chr19:37318200-37325800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr19:37318200-37325800	ZNF genes & repeats	Brain Hippocampus Middle	brain
31	chr19:37318200-37327000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
32	chr19:37318200-37328200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr19:37318400-37325800	ZNF genes & repeats	Primary B cells from cord blood	blood
34	chr19:37318400-37325800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
35	chr19:37318400-37327200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr19:37318600-37325800	ZNF genes & repeats	Brain Anterior Caudate	brain
37	chr19:37319400-37325800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr19:37319400-37325800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
39	chr19:37319400-37326000	ZNF genes & repeats	Primary T cells from cord blood	blood
40	chr19:37319600-37327000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:37319800-37325800	ZNF genes & repeats	Fetal Brain Male	brain
42	chr19:37321000-37327200	ZNF genes & repeats	Brain Substantia Nigra	brain
43	chr19:37322200-37325800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
44	chr19:37322200-37326200	ZNF genes & repeats	Fetal Stomach	stomach
45	chr19:37322200-37327000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:37322200-37327400	ZNF genes & repeats	NHEK	skin
47	chr19:37322600-37326600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr19:37322600-37328200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:37322800-37325800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
50	chr19:37322800-37326800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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