Variant report

Variant	esv1121374
Chromosome Location	chr19:40696139-40696140
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr19:40695794-40697935	K562	blood:	n/a	chr19:40697375-40697384
2	RPC155	chr19:40695883-40696687	Hela-S3	cervix:	n/a	n/a
3	SIN3AK20	chr19:40695285-40697463	PANC-1	pancreas:	n/a	n/a
4	SREBP2	chr19:40695849-40697454	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40688598..40690270-chr19:40694622..40697425,2	K562	blood:
2	chr19:40688006..40692388-chr19:40694622..40697525,4	K562	blood:
3	chr19:40684807..40686349-chr19:40694812..40696838,2	K562	blood:
4	chr19:40695407..40698481-chr19:40788292..40792778,5	K562	blood:
5	chr19:40695427..40698103-chr19:41080992..41083965,2	K562	blood:

Variant related genes	Relation type
MAP3K10	TF binding region
ENSG00000105221	chromatin interactions
ENSG00000160410	chromatin interactions
ENSG00000207631	chromatin interactions

Extended variants
information (count: 0)
Associated
traits (count: 65 )

No data

Variant related diseases (count:65)

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
Lung cancer	21569311	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
Breast cancer	22522925	CNVD
Pleomorphic liposarcoma	18784837	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40686000-40696200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:40691600-40696400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr19:40694800-40696200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr19:40694800-40696400	Weak transcription	NHEK	skin
5	chr19:40695000-40696400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr19:40695600-40696400	Enhancers	A549	lung
7	chr19:40695600-40696600	Enhancers	Fetal Brain Male	brain
8	chr19:40695800-40696200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr19:40695800-40696200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr19:40695800-40696200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr19:40695800-40696200	Enhancers	Brain Hippocampus Middle	brain
12	chr19:40695800-40696200	Enhancers	NHDF-Ad	bronchial
13	chr19:40695800-40696400	Enhancers	Primary B cells from peripheral blood	blood
14	chr19:40695800-40696400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr19:40695800-40696400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:40695800-40696400	Enhancers	Brain Cingulate Gyrus	brain
17	chr19:40695800-40696400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr19:40695800-40696400	Enhancers	HepG2	liver
19	chr19:40695800-40696400	Enhancers	NHLF	lung
20	chr19:40695800-40698000	Active TSS	GM12878-XiMat	blood
21	chr19:40695800-40698600	Active TSS	Osteobl	bone
22	chr19:40696000-40696200	Enhancers	Adipose Nuclei	Adipose
23	chr19:40696000-40696400	Enhancers	Primary B cells from cord blood	blood
24	chr19:40696000-40696400	Active TSS	Hela-S3	cervix
25	chr19:40696000-40696600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr19:40696000-40698400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr19:40696000-40698400	Active TSS	Brain Angular Gyrus	brain

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