Variant report

Variant	esv3530359
Chromosome Location	chr14:84434230-84440895
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 269 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372158744	chr14:84434230-84434231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535663438	chr14:84434233-84434234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185022272	chr14:84434241-84434242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188666744	chr14:84434242-84434243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552898564	chr14:84434267-84434268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540088484	chr14:84434290-84434291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558506449	chr14:84434335-84434336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572846223	chr14:84434342-84434343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533794854	chr14:84434404-84434405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377649949	chr14:84434436-84434437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181199783	chr14:84434494-84434495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186949461	chr14:84434499-84434500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191923424	chr14:84434501-84434502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10132537	chr14:84434617-84434618	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs183313150	chr14:84434669-84434670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544639236	chr14:84434759-84434760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544868205	chr14:84434836-84434837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187457523	chr14:84434855-84434856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140523803	chr14:84434974-84434975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546631509	chr14:84435024-84435025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201314741	chr14:84435036-84435037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190957313	chr14:84435041-84435042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113683203	chr14:84435050-84435051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569402142	chr14:84435112-84435113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150746332	chr14:84435132-84435133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139034385	chr14:84435214-84435215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12887904	chr14:84435272-84435273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs182384954	chr14:84435307-84435308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555447148	chr14:84435312-84435313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12887780	chr14:84435326-84435327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs537905306	chr14:84435330-84435331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556000523	chr14:84435338-84435339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374944156	chr14:84435351-84435352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576412396	chr14:84435402-84435403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149889252	chr14:84435406-84435407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560006570	chr14:84435443-84435444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572055952	chr14:84435479-84435480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542518399	chr14:84435480-84435481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186779912	chr14:84435487-84435488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191907359	chr14:84435509-84435510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369891344	chr14:84435579-84435580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112225576	chr14:84435629-84435630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183304780	chr14:84435637-84435638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541358244	chr14:84435699-84435700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146630827	chr14:84435711-84435712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552042104	chr14:84435718-84435719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560129823	chr14:84435734-84435735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368443507	chr14:84435736-84435737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187794462	chr14:84435744-84435745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141455385	chr14:84435769-84435770	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
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

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:84419000-84436000	Weak transcription	Pancreas	Pancrea
2	chr14:84427800-84436000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:84434600-84434800	Enhancers	Ovary	ovary
4	chr14:84434800-84436000	Weak transcription	Ovary	ovary
5	chr14:84435400-84436800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:84436000-84436200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:84436000-84436600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:84436000-84436600	Enhancers	Ovary	ovary
9	chr14:84436000-84436800	Enhancers	Pancreas	Pancrea
10	chr14:84436200-84436600	Enhancers	Rectal Smooth Muscle	rectum
11	chr14:84436200-84440800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:84436600-84440000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:84436600-84442000	Weak transcription	Ovary	ovary
14	chr14:84436800-84438000	Weak transcription	Pancreas	Pancrea
15	chr14:84438000-84439600	Active TSS	Pancreas	Pancrea
16	chr14:84438800-84440800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr14:84439600-84440600	Weak transcription	Pancreas	Pancrea
18	chr14:84439600-84443000	Enhancers	Adipose Nuclei	Adipose
19	chr14:84440000-84443000	Enhancers	Rectal Smooth Muscle	rectum
20	chr14:84440000-84443000	Enhancers	Hela-S3	cervix
21	chr14:84440600-84441200	Active TSS	Pancreas	Pancrea
22	chr14:84440600-84442000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:84440600-84443000	Enhancers	Colon Smooth Muscle	Colon
24	chr14:84440600-84444200	Enhancers	Fetal Heart	heart
25	chr14:84440800-84441000	Enhancers	Spleen	Spleen
26	chr14:84440800-84441200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:84440800-84441200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:84440800-84441200	Enhancers	Psoas Muscle	Psoas
29	chr14:84440800-84441400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:84440800-84443000	Enhancers	Fetal Stomach	stomach

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