Variant report

Variant	nsv522273
Chromosome Location	chr19:53115843-53116060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:53109871..53112715-chr19:53114135..53116216,3	K562	blood:
2	chr19:52406735..52408758-chr19:53114766..53117318,2	K562	blood:
3	chr19:53115970..53118193-chr19:53236786..53238588,2	K562	blood:
4	chr19:53115087..53117490-chr19:53126115..53129040,2	K562	blood:
5	chr19:53105509..53107487-chr19:53113900..53115997,2	K562	blood:

No data

(count:1 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ZNF83	hsa-miR-155-5p	chr19:53115871-53115891

Variant related genes	Relation type
ENSG00000213020	chromatin interactions
ENSG00000198093	chromatin interactions

Extended variants
information (count: 9 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13103	chr19:53115843-53115844	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545314278	chr19:53115859-53115860	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs571126369	chr19:53115864-53115865	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs371761063	chr19:53115869-53115870	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs556973863	chr19:53115935-53115936	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs575518895	chr19:53115938-53115939	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs10383	chr19:53115978-53115979	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs377307964	chr19:53116007-53116008	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs1046648	chr19:53116060-53116061	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:65)

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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53105200-53116200	Weak transcription	Left Ventricle	heart
2	chr19:53105200-53116600	Weak transcription	Brain Substantia Nigra	brain
3	chr19:53105200-53120200	Weak transcription	Aorta	Aorta
4	chr19:53105400-53116000	Weak transcription	Fetal Brain Female	brain
5	chr19:53105400-53116400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr19:53105400-53116400	Weak transcription	Ovary	ovary
7	chr19:53105400-53121200	Weak transcription	Fetal Brain Male	brain
8	chr19:53105600-53116200	Weak transcription	Brain Anterior Caudate	brain
9	chr19:53105800-53116200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr19:53105800-53116200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr19:53105800-53116200	Weak transcription	Colon Smooth Muscle	Colon
12	chr19:53105800-53116400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr19:53105800-53117000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr19:53105800-53129000	Weak transcription	Hela-S3	cervix
15	chr19:53106200-53116400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr19:53106400-53116400	Weak transcription	Fetal Kidney	kidney
17	chr19:53106800-53116000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr19:53107000-53136600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:53109000-53116200	Weak transcription	Fetal Muscle Leg	muscle
20	chr19:53110600-53119400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr19:53112000-53117400	ZNF genes & repeats	Fetal Intestine Large	intestine
22	chr19:53112000-53131600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr19:53112400-53123400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr19:53112800-53123200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:53113000-53116000	Weak transcription	Brain Angular Gyrus	brain
26	chr19:53113000-53120000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr19:53113200-53119400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
28	chr19:53113200-53121600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr19:53113400-53119800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
30	chr19:53113400-53122000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
31	chr19:53113600-53116200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr19:53113800-53123800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:53114200-53122200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr19:53114800-53117400	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr19:53114800-53121600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr19:53115000-53117800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr19:53115000-53118000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
38	chr19:53115000-53121000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr19:53115000-53122000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr19:53115200-53120600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
41	chr19:53115200-53120800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
42	chr19:53115200-53121200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr19:53115200-53121600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
44	chr19:53115200-53122000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
45	chr19:53115400-53117800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr19:53115400-53119000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
47	chr19:53115400-53119800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr19:53115400-53120000	Strong transcription	Fetal Lung	lung
49	chr19:53115400-53120200	Strong transcription	Rectal Smooth Muscle	rectum
50	chr19:53115400-53120400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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