Variant report

Variant	nsv510626
Chromosome Location	chr14:19007979-19058310
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 5243 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:5243 , 50 per page) page: 1 2 3 4 5 6 7 ... 105

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554808005	chr14:19007982-19007983	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573042920	chr14:19007987-19007988	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111950379	chr14:19007994-19007995	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199627284	chr14:19008001-19008002	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200347442	chr14:19008010-19008011	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79075374	chr14:19008011-19008012	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564715111	chr14:19008014-19008015	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199798950	chr14:19008043-19008044	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147717288	chr14:19008045-19008046	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370808491	chr14:19008051-19008052	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533282675	chr14:19008053-19008054	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201486962	chr14:19008055-19008056	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545073088	chr14:19008056-19008057	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201291400	chr14:19008063-19008064	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112215608	chr14:19008065-19008066	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61974080	chr14:19008069-19008070	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563346538	chr14:19008080-19008081	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372796028	chr14:19008082-19008083	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530897677	chr14:19008085-19008086	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61974081	chr14:19008089-19008090	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549102064	chr14:19008090-19008091	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201817413	chr14:19008102-19008103	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200068694	chr14:19008104-19008105	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371713061	chr14:19008117-19008118	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377378959	chr14:19008129-19008130	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567997261	chr14:19008130-19008131	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374946672	chr14:19008136-19008137	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61974082	chr14:19008141-19008142	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528759579	chr14:19008143-19008144	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61974083	chr14:19008145-19008146	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184610277	chr14:19008160-19008161	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201009944	chr14:19008171-19008172	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61974084	chr14:19008187-19008188	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370744944	chr14:19008189-19008190	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61974085	chr14:19008190-19008191	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147167766	chr14:19008202-19008203	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200123427	chr14:19008208-19008209	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28820663	chr14:19008218-19008219	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538759501	chr14:19008227-19008228	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557046884	chr14:19008228-19008229	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202052774	chr14:19008229-19008230	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28793940	chr14:19008238-19008239	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201078058	chr14:19008246-19008247	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28770786	chr14:19008252-19008253	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536283525	chr14:19008263-19008264	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537395903	chr14:19008279-19008280	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554261384	chr14:19008281-19008282	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573117721	chr14:19008289-19008290	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200449393	chr14:19008327-19008328	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367866491	chr14:19008332-19008333	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Breast cancer	22522925	CNVD

Chromatin state (count:449 , 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	chr14:19004200-19011400	Weak transcription	Aorta	Aorta
7	chr14:19004200-19016200	Weak transcription	K562	blood
8	chr14:19005200-19008800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
9	chr14:19006600-19011400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr14:19006600-19011400	Weak transcription	Colon Smooth Muscle	Colon
11	chr14:19007200-19014000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:19007800-19008000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr14:19008200-19009800	ZNF genes & repeats	HUVEC	blood vessel
14	chr14:19008600-19008800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:19008600-19012000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:19008800-19013600	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr14:19009000-19012000	ZNF genes & repeats	Liver	Liver
18	chr14:19009200-19010200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
19	chr14:19009400-19011800	ZNF genes & repeats	HMEC	breast
20	chr14:19009600-19012000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
21	chr14:19009800-19010000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:19010400-19012200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:19010800-19012000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr14:19011000-19012000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr14:19011000-19012000	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr14:19011000-19012000	ZNF genes & repeats	Fetal Brain Male	brain
27	chr14:19011000-19014000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:19011200-19011800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
29	chr14:19011200-19011800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
30	chr14:19011200-19011800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
31	chr14:19011200-19011800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
32	chr14:19011200-19011800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
33	chr14:19011200-19011800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:19011200-19011800	ZNF genes & repeats	Left Ventricle	heart
35	chr14:19011200-19012000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr14:19011200-19012000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:19011200-19012000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chr14:19011200-19012000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:19011200-19012000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
40	chr14:19011200-19012000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
41	chr14:19011200-19012000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
42	chr14:19011200-19012000	ZNF genes & repeats	Fetal Lung	lung
43	chr14:19011200-19012000	ZNF genes & repeats	Psoas Muscle	Psoas
44	chr14:19011200-19012000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
45	chr14:19011200-19012000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
46	chr14:19011200-19012000	ZNF genes & repeats	HUVEC	blood vessel
47	chr14:19011200-19012000	ZNF genes & repeats	NH-A	brain
48	chr14:19011200-19013600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
49	chr14:19011200-19013600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
50	chr14:19011200-19014000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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