Variant report

Variant	esv275248
Chromosome Location	chr14:72954653-72956578
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2190937	chr14:72954653-72954654	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs12161899	chr14:72954671-72954672	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs141742400	chr14:72954694-72954695	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs530228950	chr14:72954699-72954700	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs181933558	chr14:72954700-72954701	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs560314696	chr14:72954715-72954716	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs376883404	chr14:72954719-72954720	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs2239276	chr14:72954772-72954773	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs147078026	chr14:72954781-72954782	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs570451640	chr14:72954783-72954784	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs2239275	chr14:72954805-72954806	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs2239274	chr14:72954859-72954860	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs138544618	chr14:72954864-72954865	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs75377031	chr14:72954865-72954866	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs553614905	chr14:72954911-72954912	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs528824536	chr14:72954925-72954926	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs111435012	chr14:72954935-72954936	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs142612003	chr14:72954974-72954975	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs150301989	chr14:72954979-72954980	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs2239273	chr14:72954990-72954991	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs2239272	chr14:72955023-72955024	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs74943082	chr14:72955028-72955029	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs544881195	chr14:72955054-72955055	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs556614073	chr14:72955102-72955103	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs574855074	chr14:72955111-72955112	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs74910679	chr14:72955112-72955113	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs137892772	chr14:72955114-72955115	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs560413553	chr14:72955144-72955145	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs532552131	chr14:72955145-72955146	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs149495511	chr14:72955153-72955154	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs143945197	chr14:72955154-72955155	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs138559400	chr14:72955170-72955171	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs531510060	chr14:72955171-72955172	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs549628707	chr14:72955174-72955175	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs12891926	chr14:72955230-72955231	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs528917255	chr14:72955280-72955281	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs187220770	chr14:72955297-72955298	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs565685911	chr14:72955342-72955343	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs12588021	chr14:72955384-72955385	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs78664798	chr14:72955544-72955545	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs571024675	chr14:72955551-72955552	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs538563230	chr14:72955565-72955566	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs556922520	chr14:72955574-72955575	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs56285820	chr14:72955597-72955598	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs575059953	chr14:72955652-72955653	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs541895674	chr14:72955672-72955673	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs554131386	chr14:72955679-72955680	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs56106425	chr14:72955709-72955710	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs534573173	chr14:72955711-72955712	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs141748774	chr14:72955732-72955733	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	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	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
head and neck squamous cell carcinoma	24351288	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Biliary cancer	19435499	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	16608533	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72944000-72957600	Weak transcription	Left Ventricle	heart
2	chr14:72949400-72962600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:72953200-72956800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
4	chr14:72953600-72961200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:72956000-72956600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:72956000-72956600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:72956200-72956600	ZNF genes & repeats	Brain Substantia Nigra	brain
8	chr14:72956200-72956800	ZNF genes & repeats	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links