Variant report

Variant	esv3363921
Chromosome Location	chr14:65890588-65890927
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	chr14:65890670..65892894-chr14:65906484..65908043,2	K562	blood:
2	chr14:65880600..65882625-chr14:65890707..65892397,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7151561	chr14:65890603-65890604	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12435850	chr14:65890650-65890651	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs183919738	chr14:65890665-65890666	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs367952034	chr14:65890685-65890686	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs147878874	chr14:65890688-65890689	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs186423555	chr14:65890698-65890699	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs141493969	chr14:65890721-65890722	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs73282289	chr14:65890727-65890728	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs564757121	chr14:65890751-65890752	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs36059393	chr14:65890774-65890775	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs546672691	chr14:65890787-65890788	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs73282292	chr14:65890832-65890833	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs77743631	chr14:65890837-65890838	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs79753318	chr14:65890852-65890853	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs190877324	chr14:65890882-65890883	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs182980249	chr14:65890897-65890898	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs537387005	chr14:65890902-65890903	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Non-syndromic sensorineural hearing loss	18496225	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
Hypoplastic left heart syndrome	22349727	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65880600-65899400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:65880600-65899400	Weak transcription	Small Intestine	intestine
3	chr14:65880800-65896800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:65880800-65898000	Weak transcription	Gastric	stomach
5	chr14:65880800-65904800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:65881000-65899400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr14:65881000-65902600	Weak transcription	Fetal Intestine Small	intestine
8	chr14:65881800-65895000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr14:65881800-65901000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:65881800-65902000	Weak transcription	Primary B cells from cord blood	blood
11	chr14:65881800-65902000	Weak transcription	Fetal Intestine Large	intestine
12	chr14:65882200-65890600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr14:65882600-65900200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:65883800-65890600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:65884200-65890600	Weak transcription	Stomach Mucosa	stomach
16	chr14:65886200-65895600	Weak transcription	Primary T cells from cord blood	blood
17	chr14:65886600-65905600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:65886800-65890600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:65886800-65890800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr14:65886800-65898000	Weak transcription	Dnd41	blood
21	chr14:65887000-65892600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr14:65887400-65898400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:65888200-65891400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:65888200-65892800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:65888200-65898800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:65888200-65898800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:65888400-65898800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr14:65888400-65905400	Weak transcription	Ovary	ovary
29	chr14:65888800-65892200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:65888800-65898800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr14:65889000-65898800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr14:65889000-65901400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:65889200-65894000	Weak transcription	Brain Substantia Nigra	brain
34	chr14:65889200-65894400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr14:65889200-65894600	Weak transcription	Brain Angular Gyrus	brain
36	chr14:65889200-65898000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr14:65889200-65899400	Weak transcription	Colon Smooth Muscle	Colon
38	chr14:65889200-65899400	Weak transcription	NHDF-Ad	bronchial
39	chr14:65889400-65891200	Weak transcription	NH-A	brain
40	chr14:65889400-65891200	Weak transcription	Osteobl	bone
41	chr14:65889400-65892600	Weak transcription	K562	blood
42	chr14:65889400-65894600	Weak transcription	Brain Hippocampus Middle	brain
43	chr14:65889600-65890600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:65889600-65891400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr14:65890400-65891000	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr14:65890600-65890800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr14:65890600-65891000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr14:65890600-65891000	Enhancers	Stomach Mucosa	stomach
49	chr14:65890600-65891200	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr14:65890600-65891600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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