Variant report

Variant	esv2439284
Chromosome Location	chr14:68418785-68420303
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68419778..68421283-chr14:68658459..68660367,2	MCF-7	breast:
2	chr14:68407980..68410923-chr14:68417842..68420076,2	K562	blood:
3	chr14:68416521..68418894-chr14:68426860..68428959,2	MCF-7	breast:
4	chr14:68417833..68419421-chr14:68423869..68425506,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577394485	chr14:68418852-68418853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573827779	chr14:68418882-68418883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112396068	chr14:68418899-68418900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375785909	chr14:68418902-68418903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575371158	chr14:68418932-68418933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369085077	chr14:68418933-68418934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142824001	chr14:68418943-68418944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559550287	chr14:68418988-68418989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9652362	chr14:68419005-68419006	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs551892748	chr14:68419061-68419062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143304394	chr14:68419067-68419068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147545152	chr14:68419071-68419072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140274693	chr14:68419082-68419083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187658875	chr14:68419083-68419084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534961179	chr14:68419084-68419085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149672109	chr14:68419104-68419105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17104798	chr14:68419262-68419263	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs373988429	chr14:68419266-68419267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538892009	chr14:68419278-68419279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557408676	chr14:68419289-68419290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201785676	chr14:68419320-68419321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80150496	chr14:68419331-68419332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77103116	chr14:68419332-68419333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148430395	chr14:68419347-68419348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142588717	chr14:68419399-68419400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150981543	chr14:68419420-68419421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141045938	chr14:68419470-68419471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547070449	chr14:68419489-68419490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553341051	chr14:68419494-68419495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371029070	chr14:68419585-68419586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs60014063	chr14:68419586-68419587	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs545259684	chr14:68419596-68419597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563491742	chr14:68419609-68419610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530882576	chr14:68419650-68419651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192836865	chr14:68419675-68419676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75894457	chr14:68419707-68419708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9652363	chr14:68419708-68419709	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs546886445	chr14:68419763-68419764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571634909	chr14:68419780-68419781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532550933	chr14:68419791-68419792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143463872	chr14:68419850-68419851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550726659	chr14:68419852-68419853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184791331	chr14:68419859-68419860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536699049	chr14:68419881-68419882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376660270	chr14:68419883-68419884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555446915	chr14:68419913-68419914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146763784	chr14:68419938-68419939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561989735	chr14:68419947-68419948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9652364	chr14:68419973-68419974	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs553291672	chr14:68420077-68420078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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
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
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
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68408600-68420200	Weak transcription	Ovary	ovary
2	chr14:68408600-68430200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:68408600-68435400	Weak transcription	Thymus	Thymus
4	chr14:68409400-68434200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:68409600-68430600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:68412000-68421600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:68412000-68423800	Weak transcription	Stomach Mucosa	stomach
8	chr14:68412000-68431000	Weak transcription	Small Intestine	intestine
9	chr14:68417200-68418800	Enhancers	Fetal Intestine Small	intestine
10	chr14:68417200-68419200	Weak transcription	Aorta	Aorta
11	chr14:68417400-68428200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr14:68417600-68418800	Enhancers	Duodenum Mucosa	Duodenum
13	chr14:68417800-68419000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr14:68417800-68419200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr14:68417800-68419400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:68418000-68419600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:68418400-68418800	Enhancers	A549	lung
18	chr14:68418400-68419000	Enhancers	NHDF-Ad	bronchial
19	chr14:68418400-68420200	Enhancers	Fetal Lung	lung
20	chr14:68418600-68418800	Enhancers	Fetal Stomach	stomach
21	chr14:68418800-68419600	Enhancers	Colon Smooth Muscle	Colon
22	chr14:68418800-68419800	Weak transcription	Fetal Stomach	stomach
23	chr14:68419000-68420000	Enhancers	Rectal Smooth Muscle	rectum
24	chr14:68419200-68419400	Enhancers	Aorta	Aorta
25	chr14:68419400-68421600	Weak transcription	Aorta	Aorta
26	chr14:68419600-68420000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:68419600-68424800	Weak transcription	Colon Smooth Muscle	Colon
28	chr14:68419800-68420200	Enhancers	Fetal Stomach	stomach
29	chr14:68420000-68421800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:68420000-68424800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr14:68420200-68420400	Enhancers	Ovary	ovary
32	chr14:68420200-68421800	Weak transcription	Fetal Lung	lung
33	chr14:68420200-68423600	Weak transcription	Fetal Stomach	stomach

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