Variant report

Variant	esv1617701
Chromosome Location	chr19:52215806-52215808
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:52205873..52210007-chr19:52211189..52216257,9	K562	blood:
2	chr19:52215661..52216484-chr19:52286408..52287282,3	MCF-7	breast:
3	chr19:52213601..52216157-chr19:52216893..52219769,2	MCF-7	breast:
4	chr19:52214081..52217958-chr19:52222891..52225862,3	K562	blood:
5	chr19:52197003..52199691-chr19:52213714..52215992,2	MCF-7	breast:
6	chr19:52213474..52215839-chr19:52229447..52232151,2	K562	blood:
7	chr19:52210301..52211912-chr19:52215119..52217997,2	K562	blood:
8	chr19:52213474..52218033-chr19:52227253..52233222,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000182310	chromatin interactions
ENSG00000105509	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35352066	chr19:52215806-52215807	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs398101263	chr19:52215807-52215808	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Adrenocortical carcinoma	18281524	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
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52208000-52216600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:52208400-52216200	Weak transcription	Fetal Brain Male	brain
3	chr19:52208400-52218200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr19:52208400-52220200	Weak transcription	Ovary	ovary
5	chr19:52208600-52218800	Weak transcription	Fetal Heart	heart
6	chr19:52208800-52222000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr19:52209600-52222400	Weak transcription	Spleen	Spleen
8	chr19:52210400-52216400	Weak transcription	Brain Anterior Caudate	brain
9	chr19:52210400-52216800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr19:52210400-52218200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr19:52210400-52222000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:52210800-52216400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr19:52211000-52216200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:52211000-52216200	Weak transcription	HMEC	breast
15	chr19:52211000-52218000	Weak transcription	Brain Hippocampus Middle	brain
16	chr19:52211200-52216400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr19:52211200-52216600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:52211200-52218200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr19:52211400-52216600	Weak transcription	Fetal Lung	lung
20	chr19:52211400-52219200	Weak transcription	Brain Angular Gyrus	brain
21	chr19:52211600-52216200	Weak transcription	Osteobl	bone
22	chr19:52211600-52218400	Weak transcription	K562	blood
23	chr19:52211800-52216200	Weak transcription	NHLF	lung
24	chr19:52213000-52217000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:52213200-52216600	Enhancers	Primary B cells from peripheral blood	blood
26	chr19:52213200-52217000	Weak transcription	Esophagus	oesophagus
27	chr19:52213200-52217200	Weak transcription	Placenta	Placenta
28	chr19:52213400-52217000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr19:52213400-52218000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:52213800-52218200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr19:52214200-52222400	Weak transcription	HSMM	muscle
32	chr19:52214400-52216600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
33	chr19:52214400-52216800	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr19:52214800-52216800	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr19:52215400-52216400	Weak transcription	Primary B cells from cord blood	blood
36	chr19:52215600-52217400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:52215800-52216200	Enhancers	Fetal Kidney	kidney
38	chr19:52215800-52216400	Weak transcription	Right Ventricle	heart

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