Variant report

Variant	esv3401409
Chromosome Location	chr14:66402099-66403647
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:66396337..66398949-chr14:66400737..66403632,3	MCF-7	breast:
2	chr14:66403172..66405104-chr14:66407998..66409669,3	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572404907	chr14:66402121-66402122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572342894	chr14:66402217-66402218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377311846	chr14:66402224-66402225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180991765	chr14:66402245-66402246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549221246	chr14:66402249-66402250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186082760	chr14:66402259-66402260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4902438	chr14:66402260-66402261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532122040	chr14:66402301-66402302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145084996	chr14:66402316-66402317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571585167	chr14:66402327-66402328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7158345	chr14:66402359-66402360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs377439058	chr14:66402515-66402516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200569944	chr14:66402516-66402517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532879634	chr14:66402532-66402533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs57712138	chr14:66402541-66402542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs67282745	chr14:66402549-66402550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535089640	chr14:66402564-66402565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10696059	chr14:66402570-66402571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368786503	chr14:66402571-66402572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140813063	chr14:66402572-66402573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10647459	chr14:66402580-66402581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71446315	chr14:66402582-66402583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192110233	chr14:66402647-66402648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147146611	chr14:66402651-66402652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183095503	chr14:66402656-66402657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199743979	chr14:66402694-66402695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527593953	chr14:66402699-66402700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200544016	chr14:66402722-66402723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs33963098	chr14:66402723-66402724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs57717378	chr14:66402724-66402725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370805822	chr14:66402763-66402764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185882813	chr14:66402886-66402887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570091149	chr14:66402892-66402893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7160332	chr14:66402919-66402920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs55737164	chr14:66402933-66402934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs558459589	chr14:66402942-66402943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140262916	chr14:66402954-66402955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111489617	chr14:66402969-66402970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61989516	chr14:66402985-66402986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs541340749	chr14:66402997-66402998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554757860	chr14:66403018-66403019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113659555	chr14:66403036-66403037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60135008	chr14:66403042-66403043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs557530565	chr14:66403078-66403079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553101188	chr14:66403100-66403101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs118061626	chr14:66403102-66403103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145423241	chr14:66403129-66403130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7142317	chr14:66403148-66403149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs558942257	chr14:66403178-66403179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527940560	chr14:66403223-66403224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
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
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	23393157	CNVD
Schizophrenia	23393157	CNVD
Seizures	23393157	CNVD
Cancer	20164919	CNVD
Cancer	17440070	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66395400-66404000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:66397000-66403200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr14:66397000-66403400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr14:66397000-66403600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:66397200-66403400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr14:66397400-66403400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr14:66397600-66403800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr14:66399800-66403200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:66399800-66403800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr14:66401600-66403400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr14:66402000-66403400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:66402000-66403600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr14:66403200-66403800	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr14:66403200-66404000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr14:66403200-66404000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:66403200-66404200	Enhancers	Primary T cells from cord blood	blood
17	chr14:66403200-66404200	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr14:66403200-66404400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr14:66403200-66404800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr14:66403200-66405000	Enhancers	Primary hematopoietic stem cells	blood
21	chr14:66403200-66408000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:66403400-66404000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:66403400-66404800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:66403400-66405600	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr14:66403400-66405600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr14:66403400-66405600	Enhancers	Dnd41	blood
27	chr14:66403400-66406400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr14:66403400-66406400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr14:66403400-66408200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr14:66403600-66404400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:66403600-66404600	Enhancers	H9 Cell Line	embryonic stem cell
32	chr14:66403600-66404600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr14:66403600-66404600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr14:66403600-66404600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr14:66403600-66404800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr14:66403600-66405600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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