Variant report

Variant	esv989058
Chromosome Location	chr14:65601785-65607798
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65600572..65603233-chr14:65606608..65608580,2	MCF-7	breast:
2	chr14:65600313..65602525-chr14:65607232..65610149,2	MCF-7	breast:
3	chr14:65600572..65603233-chr14:65606608..65608580,2	MCF-7	breast:
4	chr14:65600313..65602525-chr14:65607232..65610149,2	MCF-7	breast:
5	chr14:65588712..65590660-chr14:65602083..65604440,2	K562	blood:

Extended variants
information (count: 250 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:250 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558578555	chr14:65601844-65601845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558616850	chr14:65601881-65601882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541206046	chr14:65601888-65601889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561131535	chr14:65601933-65601934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574582184	chr14:65601937-65601938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565732918	chr14:65601958-65601959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369782908	chr14:65601965-65601966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4902364	chr14:65602006-65602007	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs532099829	chr14:65602012-65602013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142661111	chr14:65602040-65602041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190234589	chr14:65602052-65602053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4902365	chr14:65602064-65602065	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs548008777	chr14:65602069-65602070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147261291	chr14:65602087-65602088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370476047	chr14:65602091-65602092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567832141	chr14:65602104-65602105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536460490	chr14:65602124-65602125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550033177	chr14:65602125-65602126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs8015330	chr14:65602183-65602184	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs11623603	chr14:65602287-65602288	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs556520829	chr14:65602299-65602300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558515501	chr14:65602307-65602308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11627859	chr14:65602384-65602385	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs139291179	chr14:65602440-65602441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554783348	chr14:65602503-65602504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574548971	chr14:65602509-65602510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181436858	chr14:65602516-65602517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186459791	chr14:65602533-65602534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190897208	chr14:65602536-65602537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546166120	chr14:65602562-65602563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568058752	chr14:65602563-65602564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs80197417	chr14:65602592-65602593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78688679	chr14:65602728-65602729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs180790709	chr14:65602729-65602730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550412567	chr14:65602748-65602749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561651101	chr14:65602793-65602794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370508940	chr14:65602796-65602797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549968517	chr14:65602833-65602834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112315386	chr14:65602899-65602900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538941899	chr14:65602914-65602915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143221727	chr14:65602959-65602960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566033438	chr14:65602977-65602978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534732480	chr14:65602983-65602984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186494879	chr14:65602992-65602993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs118012305	chr14:65602993-65602994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537582795	chr14:65603055-65603056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35762814	chr14:65603072-65603073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577139474	chr14:65603102-65603103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138232193	chr14:65603143-65603144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368285532	chr14:65603177-65603178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65596800-65602600	Enhancers	Fetal Intestine Small	intestine
2	chr14:65597800-65602600	Enhancers	Fetal Intestine Large	intestine
3	chr14:65598200-65602200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr14:65598800-65601800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:65598800-65604400	Weak transcription	Colonic Mucosa	Colon
6	chr14:65598800-65604400	Weak transcription	Osteobl	bone
7	chr14:65599000-65601800	Weak transcription	NHEK	skin
8	chr14:65599200-65602000	Enhancers	HepG2	liver
9	chr14:65601400-65601800	Enhancers	Duodenum Mucosa	Duodenum
10	chr14:65601400-65602000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:65601400-65602400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:65601400-65602400	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr14:65601600-65602000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr14:65601600-65602200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr14:65601600-65602200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:65601600-65602400	Enhancers	Fetal Thymus	thymus
17	chr14:65601600-65602400	Enhancers	Dnd41	blood
18	chr14:65601600-65605400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr14:65601800-65602000	Enhancers	HMEC	breast
20	chr14:65601800-65602200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:65601800-65602200	Enhancers	Thymus	Thymus
22	chr14:65601800-65602200	Enhancers	NHEK	skin
23	chr14:65602000-65604400	Weak transcription	HMEC	breast
24	chr14:65602000-65604600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:65602200-65604200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:65602200-65604400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:65602200-65604400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr14:65602400-65604400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:65602400-65604400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr14:65602600-65604400	Weak transcription	Fetal Intestine Small	intestine
31	chr14:65602600-65604600	Weak transcription	Fetal Intestine Large	intestine
32	chr14:65604200-65605000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:65604400-65604800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:65604400-65604800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:65604400-65604800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:65604400-65604800	Enhancers	Colonic Mucosa	Colon
37	chr14:65604400-65605000	Enhancers	HMEC	breast
38	chr14:65604400-65605000	Enhancers	NHEK	skin
39	chr14:65604400-65605000	Enhancers	Osteobl	bone
40	chr14:65604400-65605200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:65604400-65605200	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr14:65604400-65605200	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr14:65604400-65605400	Enhancers	Fetal Intestine Small	intestine
44	chr14:65604600-65604800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:65604600-65604800	Enhancers	HSMMtube	muscle
46	chr14:65604600-65605400	Enhancers	Fetal Intestine Large	intestine
47	chr14:65604800-65605200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:65604800-65605400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:65605000-65609200	Weak transcription	Osteobl	bone
50	chr14:65605400-65608800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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