Variant report

Variant	esv13786
Chromosome Location	chr14:19000219-19052099
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:19023553..19024073-chr6:58778553..58779079,2	MCF-7	breast:
2	chr14:19019125..19019628-chr3:161087703..161088203,2	MCF-7	breast:
3	chr14:19022553..19024053-chr6:58774785..58777168,2	MCF-7	breast:

Extended variants
information (count: 6220 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:6220 , 50 per page) page: 1 2 3 4 5 6 7 ... 125

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28796940	chr14:19000422-19000423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs79841624	chr14:19000426-19000427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs75936729	chr14:19000443-19000444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs528392680	chr14:19000472-19000473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs201845001	chr14:19000478-19000479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs201065142	chr14:19000480-19000481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs368443317	chr14:19000483-19000484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs546858416	chr14:19000497-19000498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs372216337	chr14:19000498-19000499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs375504503	chr14:19000504-19000505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs369894270	chr14:19000508-19000509	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs372523833	chr14:19000510-19000511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs539952297	chr14:19000515-19000516	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs77429138	chr14:19000516-19000517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs557945306	chr14:19000517-19000518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs375865314	chr14:19000527-19000528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs28798427	chr14:19000536-19000537	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs570049776	chr14:19000541-19000542	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs369172111	chr14:19000542-19000543	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs373471486	chr14:19000547-19000548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs370760014	chr14:19000548-19000549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs28844105	chr14:19000552-19000553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs377646321	chr14:19000553-19000554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs371058727	chr14:19000554-19000555	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs374201090	chr14:19000559-19000560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs374414082	chr14:19000561-19000562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs377697894	chr14:19000564-19000565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs80216894	chr14:19000570-19000571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs574034644	chr14:19000571-19000572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs541308805	chr14:19000572-19000573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs77321887	chr14:19000573-19000574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs553178305	chr14:19000574-19000575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs75597800	chr14:19000576-19000577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs578088491	chr14:19000577-19000578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs77269915	chr14:19000579-19000580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs76951448	chr14:19000581-19000582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs371559187	chr14:19000583-19000584	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs77457298	chr14:19000589-19000590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs149447592	chr14:19000590-19000591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs144448796	chr14:19000592-19000593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs28834685	chr14:19000594-19000595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs373554267	chr14:19000595-19000596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs377000784	chr14:19000601-19000602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs141101272	chr14:19000602-19000603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs147060331	chr14:19000605-19000606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs563196314	chr14:19000607-19000608	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs148051493	chr14:19000609-19000610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs530531833	chr14:19000613-19000614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs200066945	chr14:19000614-19000615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs542692151	chr14:19000621-19000622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Schizophrenia	21399695	CNVD
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Schizophrenia	20967226	CNVD
Autism	19287141	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	20932292	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	17142309	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	20369283	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Incontinentia Pigmenti	22033527	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:563 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:19000400-19017400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:19000600-19001200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:19000600-19001200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
4	chr14:19000600-19001400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:19000600-19001400	ZNF genes & repeats	HepG2	liver
6	chr14:19000600-19001600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:19000600-19001600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
8	chr14:19000600-19001800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:19000600-19001800	ZNF genes & repeats	Primary T cells from cord blood	blood
10	chr14:19000600-19004400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr14:19000600-19012800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr14:19000600-19017200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr14:19000600-19017800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr14:19000600-19020200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr14:19000800-19001000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:19000800-19001000	ZNF genes & repeats	Brain Substantia Nigra	brain
17	chr14:19000800-19001200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr14:19000800-19001200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:19000800-19001200	Active TSS	Aorta	Aorta
20	chr14:19000800-19001200	ZNF genes & repeats	Brain Anterior Caudate	brain
21	chr14:19000800-19001200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
22	chr14:19000800-19001200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:19000800-19001200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
24	chr14:19000800-19001200	ZNF genes & repeats	Fetal Lung	lung
25	chr14:19000800-19001200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
26	chr14:19000800-19001200	ZNF genes & repeats	Stomach Mucosa	stomach
27	chr14:19000800-19001200	ZNF genes & repeats	A549	lung
28	chr14:19000800-19001200	ZNF genes & repeats	HSMMtube	muscle
29	chr14:19000800-19001200	ZNF genes & repeats	K562	blood
30	chr14:19000800-19001200	ZNF genes & repeats	NHDF-Ad	bronchial
31	chr14:19000800-19001200	ZNF genes & repeats	Osteobl	bone
32	chr14:19000800-19001400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr14:19000800-19001400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:19000800-19001400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:19000800-19001400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:19000800-19001400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
37	chr14:19000800-19001400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:19000800-19001400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
39	chr14:19000800-19001400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
40	chr14:19000800-19001400	ZNF genes & repeats	Adipose Nuclei	Adipose
41	chr14:19000800-19001400	ZNF genes & repeats	Liver	Liver
42	chr14:19000800-19001400	ZNF genes & repeats	Brain Hippocampus Middle	brain
43	chr14:19000800-19001400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
44	chr14:19000800-19001400	ZNF genes & repeats	Fetal Brain Male	brain
45	chr14:19000800-19001400	ZNF genes & repeats	Fetal Heart	heart
46	chr14:19000800-19001400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
47	chr14:19000800-19001400	ZNF genes & repeats	HMEC	breast
48	chr14:19000800-19001400	ZNF genes & repeats	HUVEC	blood vessel
49	chr14:19000800-19001400	ZNF genes & repeats	NH-A	brain
50	chr14:19001000-19001200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood

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