Variant report

Variant	esv3165
Chromosome Location	chr14:19006844-19044586
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 4713 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:4713 , 50 per page) page: 1 2 3 4 5 6 7 ... 95

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112443941	chr14:19006846-19006847	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201505802	chr14:19006857-19006858	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28877636	chr14:19006875-19006876	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572677615	chr14:19006876-19006877	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546072099	chr14:19006892-19006893	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557944005	chr14:19006893-19006894	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576201451	chr14:19006897-19006898	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543115563	chr14:19006902-19006903	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200566224	chr14:19006916-19006917	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201549846	chr14:19006922-19006923	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561586424	chr14:19006925-19006926	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111570244	chr14:19006936-19006937	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148116099	chr14:19006937-19006938	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367799012	chr14:19006940-19006941	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147231132	chr14:19006943-19006944	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540714256	chr14:19006949-19006950	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199700402	chr14:19006951-19006952	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139472488	chr14:19006953-19006954	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111928420	chr14:19006959-19006960	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142170271	chr14:19006967-19006968	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112671201	chr14:19006971-19006972	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147282761	chr14:19006986-19006987	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs137946932	chr14:19006991-19006992	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111307853	chr14:19006992-19006993	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533284955	chr14:19006994-19006995	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551675093	chr14:19006998-19006999	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148591847	chr14:19007003-19007004	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563479497	chr14:19007007-19007008	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200799719	chr14:19007013-19007014	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201970796	chr14:19007014-19007015	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199917579	chr14:19007025-19007026	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200043228	chr14:19007036-19007037	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28884255	chr14:19007039-19007040	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200859361	chr14:19007043-19007044	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28821248	chr14:19007066-19007067	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535923371	chr14:19007082-19007083	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547506920	chr14:19007097-19007098	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111520972	chr14:19007105-19007106	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565702951	chr14:19007117-19007118	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539765376	chr14:19007132-19007133	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376949007	chr14:19007133-19007134	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113146574	chr14:19007150-19007151	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557980705	chr14:19007194-19007195	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28838603	chr14:19007198-19007199	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28823376	chr14:19007199-19007200	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75504092	chr14:19007207-19007208	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555923412	chr14:19007208-19007209	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75962670	chr14:19007218-19007219	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573691447	chr14:19007222-19007223	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541088687	chr14:19007224-19007225	ZNF genes & repeats Weak transcription	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:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	chr14:19000600-19012800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr14:19000600-19017200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr14:19000600-19017800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr14:19000600-19020200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr14:19003400-19007000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:19004200-19011400	Weak transcription	Aorta	Aorta
8	chr14:19004200-19016200	Weak transcription	K562	blood
9	chr14:19005200-19008800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr14:19005800-19007200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr14:19006600-19011400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr14:19006600-19011400	Weak transcription	Colon Smooth Muscle	Colon
13	chr14:19007200-19014000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:19007800-19008000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:19008200-19009800	ZNF genes & repeats	HUVEC	blood vessel
16	chr14:19008600-19008800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:19008600-19012000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:19008800-19013600	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr14:19009000-19012000	ZNF genes & repeats	Liver	Liver
20	chr14:19009200-19010200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
21	chr14:19009400-19011800	ZNF genes & repeats	HMEC	breast
22	chr14:19009600-19012000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr14:19009800-19010000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:19010400-19012200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:19010800-19012000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
26	chr14:19011000-19012000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
27	chr14:19011000-19012000	ZNF genes & repeats	Adipose Nuclei	Adipose
28	chr14:19011000-19012000	ZNF genes & repeats	Fetal Brain Male	brain
29	chr14:19011000-19014000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:19011200-19011800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
31	chr14:19011200-19011800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
32	chr14:19011200-19011800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
33	chr14:19011200-19011800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
34	chr14:19011200-19011800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
35	chr14:19011200-19011800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:19011200-19011800	ZNF genes & repeats	Left Ventricle	heart
37	chr14:19011200-19012000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr14:19011200-19012000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:19011200-19012000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr14:19011200-19012000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr14:19011200-19012000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
42	chr14:19011200-19012000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
43	chr14:19011200-19012000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
44	chr14:19011200-19012000	ZNF genes & repeats	Fetal Lung	lung
45	chr14:19011200-19012000	ZNF genes & repeats	Psoas Muscle	Psoas
46	chr14:19011200-19012000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
47	chr14:19011200-19012000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
48	chr14:19011200-19012000	ZNF genes & repeats	HUVEC	blood vessel
49	chr14:19011200-19012000	ZNF genes & repeats	NH-A	brain
50	chr14:19011200-19013600	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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