Variant report

Variant	esv3318539
Chromosome Location	chr19:41330115-41330582
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	chr19:41167522..41169643-chr19:41327340..41330313,2	K562	blood:
2	chr19:41308981..41310761-chr19:41328950..41331084,2	K562	blood:

Variant related genes	Relation type
ENSG00000269858	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557694979	chr19:41330137-41330138	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs79366653	chr19:41330162-41330163	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs141777035	chr19:41330172-41330173	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs561574663	chr19:41330177-41330178	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs573492198	chr19:41330178-41330179	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs7507400	chr19:41330179-41330180	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs563635372	chr19:41330190-41330191	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs142194898	chr19:41330208-41330209	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs570111434	chr19:41330216-41330217	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12975933	chr19:41330231-41330232	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs546006055	chr19:41330249-41330250	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568197419	chr19:41330267-41330268	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs150579175	chr19:41330282-41330283	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs139624977	chr19:41330331-41330332	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs78937168	chr19:41330332-41330333	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568707843	chr19:41330335-41330336	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528434773	chr19:41330341-41330342	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs147835784	chr19:41330357-41330358	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs139547315	chr19:41330358-41330359	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs548510337	chr19:41330376-41330377	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs568867679	chr19:41330397-41330398	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182185596	chr19:41330422-41330423	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs373680155	chr19:41330438-41330439	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186725258	chr19:41330441-41330442	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs145166475	chr19:41330459-41330460	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs191566998	chr19:41330483-41330484	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs371686459	chr19:41330494-41330495	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs555239378	chr19:41330514-41330515	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs181209366	chr19:41330543-41330544	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs544087523	chr19:41330549-41330550	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41315000-41332600	Weak transcription	Aorta	Aorta
2	chr19:41320200-41332800	Weak transcription	HSMMtube	muscle
3	chr19:41322600-41330600	Enhancers	Placenta	Placenta
4	chr19:41324600-41332600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr19:41324600-41332600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:41324600-41332600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr19:41324600-41332600	Weak transcription	NHLF	lung
8	chr19:41324800-41332600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr19:41324800-41332600	Weak transcription	Fetal Brain Male	brain
10	chr19:41324800-41332600	Weak transcription	Fetal Brain Female	brain
11	chr19:41324800-41332800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:41324800-41332800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr19:41324800-41332800	Weak transcription	Esophagus	oesophagus
14	chr19:41324800-41337400	Weak transcription	Colonic Mucosa	Colon
15	chr19:41324800-41339200	Weak transcription	Brain Germinal Matrix	brain
16	chr19:41325000-41337400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr19:41325600-41337400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr19:41325800-41330200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr19:41325800-41331000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr19:41325800-41331200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr19:41325800-41331200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr19:41325800-41332600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr19:41325800-41332600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr19:41325800-41332600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:41325800-41332600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:41325800-41332600	Weak transcription	Fetal Stomach	stomach
27	chr19:41325800-41332800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr19:41325800-41332800	Weak transcription	Dnd41	blood
29	chr19:41325800-41332800	Weak transcription	NHDF-Ad	bronchial
30	chr19:41325800-41332800	Weak transcription	Osteobl	bone
31	chr19:41325800-41333000	Weak transcription	Thymus	Thymus
32	chr19:41326000-41331000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr19:41326000-41332600	Weak transcription	Fetal Thymus	thymus
34	chr19:41326000-41332600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr19:41326000-41339800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr19:41326200-41332800	Weak transcription	Fetal Kidney	kidney
37	chr19:41327600-41330400	Enhancers	Fetal Intestine Small	intestine
38	chr19:41327600-41331400	Enhancers	K562	blood
39	chr19:41327600-41332600	Weak transcription	HSMM	muscle
40	chr19:41327800-41330200	Enhancers	Right Ventricle	heart
41	chr19:41327800-41330600	Enhancers	Fetal Intestine Large	intestine
42	chr19:41327800-41330800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr19:41327800-41331400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr19:41327800-41332600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr19:41328000-41330200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:41328000-41330200	Enhancers	Ovary	ovary
47	chr19:41328000-41330200	Enhancers	Pancreas	Pancrea
48	chr19:41328000-41330400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr19:41328000-41334000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:41328200-41330200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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