Variant report

Variant	esv1433537
Chromosome Location	chr19:51142030-51142031
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:51142008-51142058	HEEpiC	esophagus:	n/a
2	chr19:51142008-51142058	HCF	heart:	n/a
3	chr19:51142008-51142058	K562	blood:	n/a
4	chr19:51142008-51142058	H1-hESC	embryonic stem cell:	embryo
5	chr19:51142008-51142058	CMK	blood:	n/a
6	chr19:51142008-51142058	Caco-2	colon:	n/a
7	chr19:51142008-51142058	HCM	heart:	n/a
8	chr19:51142008-51142058	MCF-7	breast:	n/a
9	chr19:51142008-51142058	IMR90	lung:	fetal
10	chr19:51142008-51142058	HMEC	breast:	n/a
11	chr19:51142008-51142058	GM12892	blood:	n/a
12	chr19:51142008-51142058	HCT-116	colon:	n/a
13	chr19:51142008-51142058	NHDF-neo	bronchial:	n/a
14	chr19:51142008-51142058	GM19239	blood:	n/a
15	chr19:51142008-51142058	HepG2	liver:	n/a
16	chr19:51142008-51142058	SAEC	small airway:	n/a
17	chr19:51142008-51142058	HL-60	blood:	n/a
18	chr19:51142008-51142058	AG09319	gingival:	n/a
19	chr19:51142008-51142058	GM06990	blood:	n/a
20	chr19:51142008-51142058	PANC-1	pancreas:	n/a
21	chr19:51142008-51142058	SK-N-SH_RA	brain:	n/a
22	chr19:51142008-51142058	A549	lung:	n/a
23	chr19:51142008-51142058	ovcar-3	ovarian:	n/a
24	chr19:51142008-51142058	T-47D	breast:	n/a
25	chr19:51142008-51142058	NHBE	bronchial:	n/a
26	chr19:51142008-51142058	HIPEpiC	eye:	n/a
27	chr19:51142008-51142058	AG04449	skin:	fetal
28	chr19:51142008-51142058	U87	brain:	n/a
29	chr19:51142008-51142058	NT2-D1	testis:	n/a
30	chr19:51142008-51142058	AG04450	lung:	fetal
31	chr19:51142008-51142058	LNCaP	prostate:	n/a
32	chr19:51142008-51142058	HPAEpiC	pulmonary alveolar:	n/a
33	chr19:51142008-51142058	NH-A	brain:	n/a
34	chr19:51142008-51142058	Jurkat	blood:	n/a
35	chr19:51142008-51142058	AG10803	skin:	n/a
36	chr19:51142008-51142058	HRCEpiC	kidney:	n/a
37	chr19:51142008-51142058	Hepatocyte	liver:	n/a
38	chr19:51142008-51142058	RPTEC	kidney:	n/a
39	chr19:51142008-51142058	ProgFib	skin:	n/a
40	chr19:51142008-51142058	GM12891	blood:	n/a
41	chr19:51142008-51142058	BE2_C	brain:	n/a
42	chr19:51142008-51142058	AG09309	skin:	n/a
43	chr19:51142008-51142058	AoSMC	blood vessel:	n/a
44	chr19:51142008-51142058	HNPCEpiC	eye:	n/a
45	chr19:51142008-51142058	HUVEC	blood vessel:	n/a
46	chr19:51142008-51142058	SK-N-SH	brain:	n/a
47	chr19:51142008-51142058	HRE	kidney:	n/a
48	chr19:51142008-51142058	PFSK-1	brain:	n/a
49	chr19:51142008-51142058	GM12878	blood:	n/a
50	chr19:51142008-51142058	ECC-1	luminal epithelium:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51141748..51145368-chr19:51159075..51162375,5	MCF-7	breast:
2	chr19:51140689..51143199-chr19:51151505..51153507,2	K562	blood:
3	chr19:51141693..51144819-chr19:51159818..51163424,3	K562	blood:

No data

Variant related genes	Relation type
SYT3	CpG island
ENSG00000235034	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 62 )

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	rs3840925	chr19:51142030-51142031	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs397841638	chr19:51142031-51142032	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Adenoid cystic carcinoma	18698036	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
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
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	18438408	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
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51140000-51142200	Weak transcription	Pancreas	Pancrea
2	chr19:51141000-51143600	Active TSS	Brain Angular Gyrus	brain
3	chr19:51141200-51143600	Active TSS	Brain Cingulate Gyrus	brain
4	chr19:51141400-51142200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:51141400-51142200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:51141400-51142200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:51141400-51143600	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr19:51141600-51143600	Active TSS	Brain Anterior Caudate	brain
9	chr19:51141600-51143800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr19:51141800-51142200	Bivalent/Poised TSS	Fetal Brain Male	brain
11	chr19:51141800-51142600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:51141800-51142600	Bivalent Enhancer	K562	blood
13	chr19:51141800-51143000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr19:51141800-51143000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
15	chr19:51142000-51142200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr19:51142000-51142200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:51142000-51142200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
18	chr19:51142000-51142200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr19:51142000-51142200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr19:51142000-51142200	Bivalent/Poised TSS	Brain Substantia Nigra	brain
21	chr19:51142000-51142400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr19:51142000-51142400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr19:51142000-51142400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:51142000-51142400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:51142000-51142400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
26	chr19:51142000-51142400	Bivalent Enhancer	A549	lung
27	chr19:51142000-51142600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:51142000-51142600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
29	chr19:51142000-51142600	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr19:51142000-51143400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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