Variant report

Variant	esv1044151
Chromosome Location	chr19:35847251-35847252
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	FOXA1	chr19:35846935-35847346	HepG2	liver:	n/a	n/a
2	FOXA1	chr19:35847025-35847413	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:35846870-35847299	GM12878	blood:	n/a	n/a
4	ZNF384	chr19:35847055-35847407	K562	blood:	n/a	n/a
5	ZNF384	chr19:35847053-35847422	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:35842803..35847555-chr19:35958346..35962291,5	MCF-7	breast:
2	chr19:35842321..35845191-chr19:35845202..35847710,3	MCF-7	breast:

Variant related genes	Relation type
FFAR3	TF binding region
ENSG00000126266	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 64 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534972975	chr19:35847252-35847253	Enhancers Weak transcription	TF binding region 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
Pleomorphic liposarcoma	18784837	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	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	CNVD
Disorders of sex development	21048976	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
Gastric cancer	21811585	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35836800-35848000	Weak transcription	Brain Substantia Nigra	brain
2	chr19:35838200-35849200	Weak transcription	Brain Hippocampus Middle	brain
3	chr19:35839200-35848600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr19:35839200-35848800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:35840800-35848400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr19:35843600-35848000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:35843800-35848600	Weak transcription	Gastric	stomach
8	chr19:35844000-35848400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr19:35844000-35848800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr19:35844000-35849000	Weak transcription	Ovary	ovary
11	chr19:35844000-35849000	Weak transcription	Spleen	Spleen
12	chr19:35844200-35848200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr19:35844200-35848400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr19:35844200-35848400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:35844200-35848400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:35844200-35848800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr19:35844200-35849000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr19:35844200-35849000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr19:35844600-35847400	Weak transcription	Primary B cells from cord blood	blood
20	chr19:35844600-35849000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr19:35845000-35848200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr19:35845000-35848400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr19:35846200-35847600	Enhancers	Fetal Lung	lung
24	chr19:35846400-35847600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr19:35846400-35848200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr19:35846400-35848800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr19:35846800-35847400	Enhancers	Fetal Stomach	stomach
28	chr19:35846800-35847600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr19:35847000-35847600	Enhancers	Fetal Muscle Trunk	muscle
30	chr19:35847000-35848400	Weak transcription	HepG2	liver
31	chr19:35847200-35848600	Weak transcription	Adipose Nuclei	Adipose
32	chr19:35847200-35848800	Weak transcription	Liver	Liver
33	chr19:35847200-35852000	Weak transcription	GM12878-XiMat	blood

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