Variant report

Variant	nsv510632
Chromosome Location	chr14:38868313-38939927
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:38898733..38900505-chr14:38900803..38902931,2	K562	blood:
2	chr14:38862979..38864532-chr14:38872147..38873752,2	MCF-7	breast:
3	chr14:38898733..38900505-chr14:38900803..38902931,2	K562	blood:

Extended variants
information (count: 1029 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1029 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193057250	chr14:38868608-38868609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115226202	chr14:38868689-38868690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376088807	chr14:38868721-38868722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537372112	chr14:38868749-38868750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183454524	chr14:38868788-38868789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566918097	chr14:38868794-38868795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138579633	chr14:38868826-38868827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144084434	chr14:38868831-38868832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553114243	chr14:38868854-38868855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370081744	chr14:38868855-38868856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572844024	chr14:38868885-38868886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535466784	chr14:38868915-38868916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116801786	chr14:38868982-38868983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114785093	chr14:38868983-38868984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544217698	chr14:38869020-38869021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530376968	chr14:38869033-38869034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148771040	chr14:38869040-38869041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112495812	chr14:38869044-38869045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150542232	chr14:38869045-38869046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555666877	chr14:38869087-38869088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576903489	chr14:38869109-38869110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188904099	chr14:38869123-38869124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528438061	chr14:38869160-38869161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192663089	chr14:38869195-38869196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114580763	chr14:38869209-38869210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531233891	chr14:38869222-38869223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs80230920	chr14:38869228-38869229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188267329	chr14:38869243-38869244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533583480	chr14:38869259-38869260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546693068	chr14:38869260-38869261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12891395	chr14:38869276-38869277	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs139504504	chr14:38869287-38869288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555336190	chr14:38869335-38869336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577275056	chr14:38869362-38869363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115867663	chr14:38869375-38869376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538093834	chr14:38869418-38869419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115149372	chr14:38869483-38869484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116240115	chr14:38869503-38869504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77638218	chr14:38869521-38869522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553577160	chr14:38869598-38869599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149675669	chr14:38869629-38869630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146663481	chr14:38869638-38869639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191622149	chr14:38869685-38869686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115925979	chr14:38869695-38869696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372907011	chr14:38869784-38869785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564793341	chr14:38869843-38869844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527324040	chr14:38869918-38869919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113585328	chr14:38869926-38869927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184737107	chr14:38869936-38869937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554923143	chr14:38869972-38869973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intellectual disability	21811512	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38868600-38868800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr14:38868600-38879800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr14:38869000-38870400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr14:38870000-38871800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:38870000-38876000	Enhancers	HUVEC	blood vessel
6	chr14:38870400-38871200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr14:38870400-38876200	Enhancers	NHLF	lung
8	chr14:38870800-38871000	Enhancers	Fetal Lung	lung
9	chr14:38870800-38872600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:38870800-38875800	Enhancers	Hela-S3	cervix
11	chr14:38870800-38876600	Enhancers	NHDF-Ad	bronchial
12	chr14:38870800-38876800	Enhancers	HSMM	muscle
13	chr14:38871000-38871400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:38871000-38873200	Weak transcription	Fetal Lung	lung
15	chr14:38871000-38876400	Enhancers	HSMMtube	muscle
16	chr14:38871400-38874200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:38871800-38872200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:38871800-38879000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:38872200-38872400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:38872400-38874400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:38872600-38874600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:38872800-38873800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:38873000-38873600	Enhancers	NH-A	brain
24	chr14:38873000-38875400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:38873200-38875800	Enhancers	Fetal Lung	lung
26	chr14:38873600-38874000	Flanking Active TSS	NH-A	brain
27	chr14:38873600-38874200	Enhancers	NHEK	skin
28	chr14:38873800-38874000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:38874000-38874200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:38874000-38875400	Enhancers	NH-A	brain
31	chr14:38874200-38874400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:38874200-38874400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr14:38874400-38874800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:38874400-38875400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:38874400-38876600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:38874600-38875000	Enhancers	Fetal Kidney	kidney
37	chr14:38874600-38875800	Enhancers	Fetal Heart	heart
38	chr14:38874600-38878800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:38874800-38875400	Enhancers	Fetal Stomach	stomach
40	chr14:38874800-38875400	Enhancers	Ovary	ovary
41	chr14:38874800-38875400	Enhancers	Osteobl	bone
42	chr14:38874800-38876000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr14:38874800-38876000	Enhancers	Fetal Brain Female	brain
44	chr14:38874800-38877400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:38875000-38875400	Enhancers	Fetal Muscle Leg	muscle
46	chr14:38875000-38875600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:38875000-38875800	Enhancers	Brain Germinal Matrix	brain
48	chr14:38875400-38876400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:38875400-38877800	Weak transcription	NH-A	brain
50	chr14:38875400-38880000	Weak transcription	Osteobl	bone

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