Variant report

Variant	esv3318933
Chromosome Location	chr19:42940196-42940360
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	chr19:42745935..42748870-chr19:42939924..42942015,2	K562	blood:

Variant related genes	Relation type
ENSG00000105723	chromatin interactions
ENSG00000204957	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561153040	chr19:42940261-42940262	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs186194743	chr19:42940262-42940263	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs543780943	chr19:42940275-42940276	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs565172975	chr19:42940299-42940300	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs11671846	chr19:42940303-42940304	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs115589939	chr19:42940304-42940305	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs559463278	chr19:42940322-42940323	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs529775210	chr19:42940323-42940324	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs190748625	chr19:42940342-42940343	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs182950080	chr19:42940351-42940352	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Multiple myeloma	17550852	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42928800-42944800	Weak transcription	Esophagus	oesophagus
2	chr19:42929600-42945200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr19:42936200-42940600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr19:42936600-42943200	Enhancers	HepG2	liver
5	chr19:42937800-42945000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr19:42938000-42940200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:42938000-42940200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:42938000-42940200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr19:42938000-42940200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr19:42938000-42941600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr19:42938000-42942600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr19:42938000-42942800	Weak transcription	Liver	Liver
13	chr19:42938000-42942800	Weak transcription	K562	blood
14	chr19:42938000-42944400	Weak transcription	Brain Substantia Nigra	brain
15	chr19:42938000-42944600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr19:42938000-42944600	Weak transcription	Fetal Intestine Small	intestine
17	chr19:42938000-42944800	Weak transcription	Brain Hippocampus Middle	brain
18	chr19:42938000-42944800	Weak transcription	Fetal Intestine Large	intestine
19	chr19:42938000-42944800	Weak transcription	Fetal Lung	lung
20	chr19:42938000-42944800	Weak transcription	Pancreas	Pancrea
21	chr19:42938000-42944800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr19:42938000-42945200	Weak transcription	Fetal Stomach	stomach
23	chr19:42938000-42946200	Enhancers	Adipose Nuclei	Adipose
24	chr19:42938000-42946800	Weak transcription	Right Ventricle	heart
25	chr19:42938000-42950200	Weak transcription	Gastric	stomach
26	chr19:42938000-42954200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr19:42938200-42942800	Weak transcription	Stomach Mucosa	stomach
28	chr19:42938200-42944600	Weak transcription	Fetal Muscle Leg	muscle
29	chr19:42938400-42942600	Weak transcription	Brain Anterior Caudate	brain
30	chr19:42938800-42941800	Weak transcription	Lung	lung
31	chr19:42939400-42940600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:42939400-42941000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr19:42939400-42941000	Enhancers	NHDF-Ad	bronchial
34	chr19:42939400-42942200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:42939600-42940400	Enhancers	Right Atrium	heart
36	chr19:42939600-42940600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr19:42939800-42944800	Weak transcription	Left Ventricle	heart
38	chr19:42940000-42940400	Enhancers	A549	lung
39	chr19:42940200-42940400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr19:42940200-42940400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:42940200-42940600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:42940200-42940800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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