Variant report

Variant	nsv564409
Chromosome Location	chr14:38870456-38930054
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: 872 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:872 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17531891	chr14:38870456-38870457	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185218436	chr14:38870467-38870468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529575849	chr14:38870513-38870514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540977612	chr14:38870553-38870554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115201787	chr14:38870566-38870567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374707539	chr14:38870598-38870599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570566768	chr14:38870608-38870609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549026507	chr14:38870643-38870644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539656302	chr14:38870644-38870645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551113877	chr14:38870670-38870671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562463439	chr14:38870677-38870678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369619753	chr14:38870700-38870701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569476353	chr14:38870701-38870702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550945354	chr14:38870706-38870707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112968528	chr14:38870716-38870717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533832866	chr14:38870720-38870721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559128674	chr14:38870741-38870742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547298822	chr14:38870746-38870747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114490475	chr14:38870779-38870780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536079931	chr14:38870789-38870790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189978021	chr14:38870822-38870823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144152726	chr14:38870829-38870830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115373969	chr14:38870838-38870839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556020264	chr14:38870866-38870867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558182676	chr14:38870882-38870883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs180960602	chr14:38871005-38871006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200249940	chr14:38871008-38871009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115888312	chr14:38871017-38871018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116404532	chr14:38871021-38871022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368234268	chr14:38871060-38871061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146505700	chr14:38871077-38871078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563130734	chr14:38871084-38871085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149089278	chr14:38871094-38871095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143115955	chr14:38871120-38871121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564499740	chr14:38871124-38871125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527306460	chr14:38871149-38871150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372548370	chr14:38871154-38871155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547261695	chr14:38871195-38871196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567427834	chr14:38871197-38871198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533462255	chr14:38871200-38871201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376811477	chr14:38871265-38871266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541512054	chr14:38871270-38871271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs151280944	chr14:38871279-38871280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549702721	chr14:38871289-38871290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569881988	chr14:38871292-38871293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140488924	chr14:38871303-38871304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116265166	chr14:38871336-38871337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147046752	chr14:38871339-38871340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534203660	chr14:38871354-38871355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554234194	chr14:38871357-38871358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38868600-38879800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr14:38870000-38871800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr14:38870000-38876000	Enhancers	HUVEC	blood vessel
4	chr14:38870400-38871200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr14:38870400-38876200	Enhancers	NHLF	lung
6	chr14:38870800-38871000	Enhancers	Fetal Lung	lung
7	chr14:38870800-38872600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:38870800-38875800	Enhancers	Hela-S3	cervix
9	chr14:38870800-38876600	Enhancers	NHDF-Ad	bronchial
10	chr14:38870800-38876800	Enhancers	HSMM	muscle
11	chr14:38871000-38871400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:38871000-38873200	Weak transcription	Fetal Lung	lung
13	chr14:38871000-38876400	Enhancers	HSMMtube	muscle
14	chr14:38871400-38874200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:38871800-38872200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:38871800-38879000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:38872200-38872400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:38872400-38874400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:38872600-38874600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:38872800-38873800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:38873000-38873600	Enhancers	NH-A	brain
22	chr14:38873000-38875400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:38873200-38875800	Enhancers	Fetal Lung	lung
24	chr14:38873600-38874000	Flanking Active TSS	NH-A	brain
25	chr14:38873600-38874200	Enhancers	NHEK	skin
26	chr14:38873800-38874000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:38874000-38874200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:38874000-38875400	Enhancers	NH-A	brain
29	chr14:38874200-38874400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:38874200-38874400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr14:38874400-38874800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:38874400-38875400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:38874400-38876600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:38874600-38875000	Enhancers	Fetal Kidney	kidney
35	chr14:38874600-38875800	Enhancers	Fetal Heart	heart
36	chr14:38874600-38878800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:38874800-38875400	Enhancers	Fetal Stomach	stomach
38	chr14:38874800-38875400	Enhancers	Ovary	ovary
39	chr14:38874800-38875400	Enhancers	Osteobl	bone
40	chr14:38874800-38876000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr14:38874800-38876000	Enhancers	Fetal Brain Female	brain
42	chr14:38874800-38877400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:38875000-38875400	Enhancers	Fetal Muscle Leg	muscle
44	chr14:38875000-38875600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr14:38875000-38875800	Enhancers	Brain Germinal Matrix	brain
46	chr14:38875400-38876400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:38875400-38877800	Weak transcription	NH-A	brain
48	chr14:38875400-38880000	Weak transcription	Osteobl	bone
49	chr14:38876000-38877200	Weak transcription	Fetal Brain Female	brain
50	chr14:38876200-38877200	Weak transcription	NHLF	lung

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