Variant report

Variant	esv3529456
Chromosome Location	chr14:65605199-65609197
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	chr14:65600572..65603233-chr14:65606608..65608580,2	MCF-7	breast:
2	chr14:65600313..65602525-chr14:65607232..65610149,2	MCF-7	breast:

Extended variants
information (count: 165 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187769281	chr14:65605201-65605202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200813723	chr14:65605204-65605205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142636430	chr14:65605259-65605260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144885929	chr14:65605282-65605283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147961330	chr14:65605314-65605315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192691079	chr14:65605362-65605363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184674734	chr14:65605382-65605383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546741405	chr14:65605389-65605390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10873182	chr14:65605408-65605409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs55955501	chr14:65605412-65605413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs548760648	chr14:65605448-65605449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11158578	chr14:65605451-65605452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs7493525	chr14:65605476-65605477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113887387	chr14:65605487-65605488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143779734	chr14:65605493-65605494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377325210	chr14:65605556-65605557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61987426	chr14:65605571-65605572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74582002	chr14:65605572-65605573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568030902	chr14:65605574-65605575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190129214	chr14:65605592-65605593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148109958	chr14:65605595-65605596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10873183	chr14:65605608-65605609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553541434	chr14:65605647-65605648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567362805	chr14:65605715-65605716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113413960	chr14:65605725-65605726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373877203	chr14:65605815-65605816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555993851	chr14:65605822-65605823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575934817	chr14:65605827-65605828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181753317	chr14:65605848-65605849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs386778354	chr14:65605854-65605855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10873185	chr14:65605855-65605856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs371903833	chr14:65605871-65605872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566032178	chr14:65605872-65605873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147455240	chr14:65605908-65605909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367697108	chr14:65605911-65605912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535317791	chr14:65605918-65605919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540632036	chr14:65605948-65605949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550275746	chr14:65605958-65605959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs8018788	chr14:65605967-65605968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs141962776	chr14:65605976-65605977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542741667	chr14:65606006-65606007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562330884	chr14:65606121-65606122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368661617	chr14:65606149-65606150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61987427	chr14:65606152-65606153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61987428	chr14:65606156-65606157	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs571523288	chr14:65606189-65606190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373787880	chr14:65606199-65606200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527249417	chr14:65606208-65606209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547357279	chr14:65606234-65606235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61987429	chr14:65606248-65606249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

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	17440070	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65601600-65605400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr14:65604400-65605200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:65604400-65605200	Enhancers	Rectal Mucosa Donor 29	rectum
4	chr14:65604400-65605200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr14:65604400-65605400	Enhancers	Fetal Intestine Small	intestine
6	chr14:65604600-65605400	Enhancers	Fetal Intestine Large	intestine
7	chr14:65604800-65605200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:65604800-65605400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:65605000-65609200	Weak transcription	Osteobl	bone
10	chr14:65605400-65608800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:65605400-65609000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:65608800-65609200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:65608800-65609600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr14:65608800-65609800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr14:65608800-65610000	Enhancers	HSMMtube	muscle
16	chr14:65609000-65609600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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