Variant report

Variant	esv1214350
Chromosome Location	chr19:41151648-41151658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:41120316..41124225-chr19:41147891..41152450,4	K562	blood:
2	chr19:41145219..41147338-chr19:41149537..41152318,2	MCF-7	breast:
3	chr19:41120433..41122395-chr19:41149709..41152254,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090006	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	rs552650251	chr19:41151651-41151652	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs57366368	chr19:41151652-41151653	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	1 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
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
Anaplastic thyroid cancer	18753363	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41140800-41152600	Weak transcription	Right Atrium	heart
2	chr19:41145400-41153000	Enhancers	Fetal Stomach	stomach
3	chr19:41146800-41152400	Weak transcription	Colonic Mucosa	Colon
4	chr19:41146800-41152400	Weak transcription	Lung	lung
5	chr19:41146800-41157000	Weak transcription	Spleen	Spleen
6	chr19:41147000-41151800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:41147000-41151800	Weak transcription	Fetal Heart	heart
8	chr19:41147200-41151800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:41147400-41151800	Weak transcription	NH-A	brain
10	chr19:41147400-41152000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr19:41147600-41151800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr19:41147600-41152400	Weak transcription	Ovary	ovary
13	chr19:41147600-41152400	Weak transcription	NHLF	lung
14	chr19:41149800-41152000	Weak transcription	Fetal Lung	lung
15	chr19:41150000-41151800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:41150600-41151800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr19:41150800-41151800	Enhancers	Colon Smooth Muscle	Colon
18	chr19:41150800-41152400	Enhancers	Rectal Smooth Muscle	rectum
19	chr19:41151000-41151800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr19:41151000-41152200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr19:41151000-41152800	Enhancers	Fetal Muscle Trunk	muscle
22	chr19:41151200-41151800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr19:41151200-41153000	Enhancers	Fetal Muscle Leg	muscle
24	chr19:41151200-41153000	Enhancers	Placenta	Placenta
25	chr19:41151400-41151800	Enhancers	Adipose Nuclei	Adipose
26	chr19:41151400-41151800	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr19:41151400-41152400	Weak transcription	Left Ventricle	heart
28	chr19:41151400-41152600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr19:41151400-41152800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr19:41151600-41151800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:41151600-41151800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr19:41151600-41151800	Active TSS	Brain Cingulate Gyrus	brain
33	chr19:41151600-41151800	Active TSS	A549	lung
34	chr19:41151600-41151800	Active TSS	Hela-S3	cervix
35	chr19:41151600-41151800	Enhancers	HSMM	muscle
36	chr19:41151600-41151800	Enhancers	HSMMtube	muscle
37	chr19:41151600-41151800	Flanking Active TSS	NHDF-Ad	bronchial
38	chr19:41151600-41151800	Enhancers	Osteobl	bone
39	chr19:41151600-41152200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr19:41151600-41152200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr19:41151600-41152200	Weak transcription	Esophagus	oesophagus
42	chr19:41151600-41152400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr19:41151600-41152400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:41151600-41152800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:41151600-41152800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr19:41151600-41152800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr19:41151600-41152800	Active TSS	Duodenum Mucosa	Duodenum
48	chr19:41151600-41152800	Flanking Active TSS	HUVEC	blood vessel
49	chr19:41151600-41153000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr19:41151600-41153000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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