Variant report

Variant	esv3395018
Chromosome Location	chr19:44914046-44920215
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 559 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:559 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368900183	chr19:44914077-44914078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200894053	chr19:44914078-44914079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201825232	chr19:44914110-44914111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199606832	chr19:44914114-44914115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79376585	chr19:44914116-44914117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76961904	chr19:44914123-44914124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200136951	chr19:44914164-44914165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536357019	chr19:44914171-44914172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556191106	chr19:44914172-44914173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575370465	chr19:44914173-44914174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200889051	chr19:44914174-44914175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147196916	chr19:44914188-44914189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200870031	chr19:44914192-44914193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149646946	chr19:44914193-44914194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112395422	chr19:44914194-44914195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185527223	chr19:44914212-44914213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557801502	chr19:44914225-44914226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148506183	chr19:44914226-44914227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200056318	chr19:44914230-44914231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201232701	chr19:44914234-44914235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190400212	chr19:44914235-44914236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202092531	chr19:44914259-44914260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200254554	chr19:44914267-44914268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200880110	chr19:44914275-44914276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2722670	chr19:44914283-44914284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200383422	chr19:44914286-44914287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201451706	chr19:44914293-44914294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201096947	chr19:44914321-44914322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199596729	chr19:44914361-44914362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200483688	chr19:44914371-44914372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573637730	chr19:44914372-44914373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76785931	chr19:44914413-44914414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374833792	chr19:44914423-44914424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143967318	chr19:44914432-44914433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78785299	chr19:44914446-44914447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200561017	chr19:44914453-44914454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201477053	chr19:44914464-44914465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201721224	chr19:44914491-44914492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs80164446	chr19:44914494-44914495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531847296	chr19:44914509-44914510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72480801	chr19:44914523-44914524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78732695	chr19:44914539-44914540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9710455	chr19:44914543-44914544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377145957	chr19:44914545-44914546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77360333	chr19:44914547-44914548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80065925	chr19:44914571-44914572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79652227	chr19:44914583-44914584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142924573	chr19:44914626-44914627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112132128	chr19:44914638-44914639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111703435	chr19:44914642-44914643	Weak transcription	n/a	n/a	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
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44906000-44915200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr19:44906800-44915200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr19:44906800-44915200	Weak transcription	Ovary	ovary
4	chr19:44907400-44915200	Weak transcription	Right Atrium	heart
5	chr19:44913000-44915200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr19:44914600-44915200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:44914800-44915200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr19:44914800-44915200	Weak transcription	Colon Smooth Muscle	Colon
9	chr19:44914800-44915200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr19:44915000-44916000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:44915000-44916000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
12	chr19:44915000-44916000	ZNF genes & repeats	Lung	lung
13	chr19:44915200-44915400	Bivalent/Poised TSS	Left Ventricle	heart
14	chr19:44915200-44915400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
15	chr19:44915200-44915400	Enhancers	K562	blood
16	chr19:44915200-44915600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:44915200-44915600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
18	chr19:44915200-44915600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
19	chr19:44915200-44915600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
20	chr19:44915200-44915600	ZNF genes & repeats	Fetal Lung	lung
21	chr19:44915200-44915800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr19:44915200-44915800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:44915200-44915800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr19:44915200-44915800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
25	chr19:44915200-44915800	ZNF genes & repeats	Primary T cells from cord blood	blood
26	chr19:44915200-44915800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
27	chr19:44915200-44915800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:44915200-44915800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr19:44915200-44915800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
30	chr19:44915200-44915800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
31	chr19:44915200-44915800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:44915200-44915800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
33	chr19:44915200-44915800	ZNF genes & repeats	Aorta	Aorta
34	chr19:44915200-44915800	ZNF genes & repeats	Liver	Liver
35	chr19:44915200-44915800	ZNF genes & repeats	Brain Anterior Caudate	brain
36	chr19:44915200-44915800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
37	chr19:44915200-44915800	ZNF genes & repeats	Brain Hippocampus Middle	brain
38	chr19:44915200-44915800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
39	chr19:44915200-44915800	ZNF genes & repeats	Colonic Mucosa	Colon
40	chr19:44915200-44915800	ZNF genes & repeats	Colon Smooth Muscle	Colon
41	chr19:44915200-44915800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
42	chr19:44915200-44915800	ZNF genes & repeats	Esophagus	oesophagus
43	chr19:44915200-44915800	ZNF genes & repeats	Fetal Heart	heart
44	chr19:44915200-44915800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
45	chr19:44915200-44915800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
46	chr19:44915200-44915800	ZNF genes & repeats	Ovary	ovary
47	chr19:44915200-44915800	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
48	chr19:44915200-44915800	ZNF genes & repeats	Right Atrium	heart
49	chr19:44915200-44915800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
50	chr19:44915200-44915800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon

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