Variant report

Variant	esv3399811
Chromosome Location	chr14:42628251-42656324
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:42639053..42641369-chr14:42641702..42644557,2	K562	blood:
2	chr14:42645764..42648661-chr14:42652288..42655011,2	K562	blood:
3	chr14:42645764..42648661-chr14:42652288..42655011,2	K562	blood:
4	chr14:42639053..42641369-chr14:42641702..42644557,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-214N1.1.1-4	chr14:42636197-42636280	NONHSAT036584
2	lnc-RP11-214N1.1.1-4	chr14:42643642-42643785	NONHSAT036584

No data

Extended variants
information (count: 96 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12487930	chr14:42636198-42636199	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs56914465	chr14:42636201-42636202	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs144077080	chr14:42636224-42636225	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs4321470	chr14:42636254-42636255	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs111454580	chr14:42636263-42636264	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs557581780	chr14:42636265-42636266	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs6624815	chr14:42636271-42636272	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs374144967	chr14:42643642-42643643	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs80156532	chr14:42643653-42643654	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs569917738	chr14:42643669-42643670	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs72672583	chr14:42643673-42643674	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs142459560	chr14:42643692-42643693	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs58277989	chr14:42643711-42643712	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs577209686	chr14:42643758-42643759	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs535125207	chr14:42643772-42643773	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs117917879	chr14:42643783-42643784	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs113781234	chr14:42654014-42654015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550387301	chr14:42654029-42654030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568630028	chr14:42654098-42654099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181842221	chr14:42654161-42654162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548279777	chr14:42654169-42654170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566360351	chr14:42654198-42654199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186455588	chr14:42654223-42654224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558609411	chr14:42654271-42654272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76548548	chr14:42654309-42654310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568915292	chr14:42654322-42654323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537692311	chr14:42654332-42654333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555940574	chr14:42654353-42654354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537897541	chr14:42654377-42654378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201333890	chr14:42654403-42654404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574263241	chr14:42654404-42654405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs578076480	chr14:42654409-42654410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs398118119	chr14:42654413-42654414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541932814	chr14:42654448-42654449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148543531	chr14:42654569-42654570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117908356	chr14:42654577-42654578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529350830	chr14:42654595-42654596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564665910	chr14:42654659-42654660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188743448	chr14:42654667-42654668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142867203	chr14:42654721-42654722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115212483	chr14:42654768-42654769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529476624	chr14:42654775-42654776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs151208736	chr14:42654793-42654794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566543564	chr14:42654795-42654796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565283755	chr14:42654818-42654819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180757839	chr14:42654893-42654894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140317919	chr14:42654928-42654929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570065393	chr14:42654964-42654965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185319572	chr14:42654973-42654974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61993274	chr14:42655041-42655042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:59)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42654000-42654600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr14:42654400-42654800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr14:42654800-42662000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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