Variant report

Variant	esv2751287
Chromosome Location	chr14:84294487-84338247
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:84292171..84294967-chr14:84304477..84306889,2	MCF-7	breast:
2	chr14:84305420..84308089-chr14:84313303..84315570,2	MCF-7	breast:
3	chr14:84292171..84294967-chr14:84304477..84306889,2	MCF-7	breast:
4	chr14:84305420..84308089-chr14:84313303..84315570,2	MCF-7	breast:
5	chr14:84282789..84284705-chr14:84293258..84295576,2	MCF-7	breast:
6	chr14:84309371..84311362-chr14:84312416..84313933,2	MCF-7	breast:
7	chr14:84309371..84311362-chr14:84312416..84313933,2	MCF-7	breast:

Extended variants
information (count: 1516 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1516 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8003162	chr14:84294487-84294488	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567271671	chr14:84294489-84294490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566799459	chr14:84294556-84294557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370640107	chr14:84294587-84294588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553366793	chr14:84294602-84294603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140568220	chr14:84294634-84294635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535898669	chr14:84294645-84294646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74798280	chr14:84294655-84294656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575785665	chr14:84294675-84294676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377502763	chr14:84294696-84294697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546116076	chr14:84294770-84294771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564418634	chr14:84294784-84294785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376369562	chr14:84294914-84294915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185672264	chr14:84295003-84295004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369520206	chr14:84295021-84295022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116359044	chr14:84295043-84295044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111328006	chr14:84295079-84295080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550639924	chr14:84295085-84295086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562476199	chr14:84295103-84295104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12589287	chr14:84295105-84295106	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs374683753	chr14:84295138-84295139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190091322	chr14:84295149-84295150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534041948	chr14:84295172-84295173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549303736	chr14:84295174-84295175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181613635	chr14:84295180-84295181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535523279	chr14:84295260-84295261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186865751	chr14:84295266-84295267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544903051	chr14:84295287-84295288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557102675	chr14:84295308-84295309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557411762	chr14:84295309-84295310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575678281	chr14:84295339-84295340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539567351	chr14:84295367-84295368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147438448	chr14:84295369-84295370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192023172	chr14:84295406-84295407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111691625	chr14:84295413-84295414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540521942	chr14:84295442-84295443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111858457	chr14:84295479-84295480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573566060	chr14:84295497-84295498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150956088	chr14:84295510-84295511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373019773	chr14:84295522-84295523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562523265	chr14:84295529-84295530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532850505	chr14:84295593-84295594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140777805	chr14:84295609-84295610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370537837	chr14:84295649-84295650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143120392	chr14:84295695-84295696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183984123	chr14:84295712-84295713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35698394	chr14:84295729-84295730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34928878	chr14:84295848-84295849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146669288	chr14:84295856-84295857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529267974	chr14:84295899-84295900	Weak transcription	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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:84292800-84294600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr14:84293200-84295000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr14:84293400-84295400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr14:84293800-84294800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:84294200-84295000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr14:84294400-84295200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:84294800-84295200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr14:84295000-84307600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:84295200-84295400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr14:84295400-84303800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:84303000-84304000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr14:84303400-84303800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr14:84303400-84304800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr14:84303400-84305000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:84303600-84304800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr14:84303800-84304000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr14:84303800-84307800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr14:84304000-84307400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:84304000-84308000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr14:84304800-84307600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr14:84305000-84308000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr14:84307400-84308200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr14:84307600-84307800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr14:84307600-84308600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr14:84307800-84308200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr14:84307800-84308800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr14:84308000-84308400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr14:84308000-84308800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr14:84308200-84309000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr14:84308200-84309000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:84308400-84309000	Enhancers	H9 Cell Line	embryonic stem cell
32	chr14:84308800-84309200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:84308800-84309200	Enhancers	Brain Germinal Matrix	brain
34	chr14:84308800-84309200	Enhancers	Fetal Brain Female	brain
35	chr14:84309000-84309200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:84309400-84313800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:84309600-84315200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr14:84313200-84314200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:84313800-84314200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:84315800-84316400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:84315800-84316600	Enhancers	Fetal Brain Female	brain
42	chr14:84315800-84317200	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr14:84316400-84316800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr14:84316400-84316800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr14:84316400-84317000	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr14:84320400-84320800	Enhancers	Hela-S3	cervix
47	chr14:84320800-84321800	Weak transcription	Hela-S3	cervix
48	chr14:84321800-84324000	Enhancers	Hela-S3	cervix
49	chr14:84322000-84323000	Enhancers	Fetal Kidney	kidney
50	chr14:84323600-84323800	Enhancers	HUES48 Cell Line	embryonic stem cell

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