Variant report

Variant	nsv518333
Chromosome Location	chr14:80035594-80041626
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 228 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:228 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17109461	chr14:80035594-80035595	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566783234	chr14:80035624-80035625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148473514	chr14:80035653-80035654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs61029849	chr14:80035658-80035659	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs145316285	chr14:80035689-80035690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535508339	chr14:80035729-80035730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549087123	chr14:80035744-80035745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147134933	chr14:80035763-80035764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571646260	chr14:80035776-80035777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140346863	chr14:80035817-80035818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557893640	chr14:80035825-80035826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577859406	chr14:80035826-80035827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536955836	chr14:80035841-80035842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530793832	chr14:80035899-80035900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557051904	chr14:80035945-80035946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs3061386	chr14:80035972-80035973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs5005423	chr14:80035973-80035974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375887150	chr14:80035974-80035975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs199752168	chr14:80035975-80035976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200824924	chr14:80035994-80035995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs170246	chr14:80036035-80036036	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs573903271	chr14:80036037-80036038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145360917	chr14:80036060-80036061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559476945	chr14:80036097-80036098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572882686	chr14:80036165-80036166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113557226	chr14:80036177-80036178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10134188	chr14:80036182-80036183	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564766223	chr14:80036194-80036195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374496182	chr14:80036232-80036233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192025656	chr14:80036246-80036247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563510843	chr14:80036254-80036255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529459964	chr14:80036260-80036261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183116234	chr14:80036286-80036287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566142196	chr14:80036325-80036326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149214106	chr14:80036438-80036439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs17109467	chr14:80036480-80036481	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs571556299	chr14:80036521-80036522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537315385	chr14:80036639-80036640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368714129	chr14:80036641-80036642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557310474	chr14:80036739-80036740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567602045	chr14:80036758-80036759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187688760	chr14:80036780-80036781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552941811	chr14:80036796-80036797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572882229	chr14:80036810-80036811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544784133	chr14:80036853-80036854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374934729	chr14:80036881-80036882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558480506	chr14:80036963-80036964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540968135	chr14:80036998-80036999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575152258	chr14:80037001-80037002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10137102	chr14:80037004-80037005	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	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	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80011800-80069200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:80014400-80037800	Weak transcription	Aorta	Aorta
3	chr14:80027600-80036600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:80033400-80036000	Enhancers	Brain Hippocampus Middle	brain
5	chr14:80033800-80035800	Enhancers	Brain Germinal Matrix	brain
6	chr14:80034200-80036200	Enhancers	Brain Substantia Nigra	brain
7	chr14:80034400-80035600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr14:80034400-80035600	Enhancers	Brain Cingulate Gyrus	brain
9	chr14:80034400-80035800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:80034400-80035800	Enhancers	Brain Angular Gyrus	brain
11	chr14:80034400-80035800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr14:80034600-80035600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr14:80034600-80035800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:80034800-80035600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr14:80034800-80035600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr14:80034800-80035600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr14:80034800-80035800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr14:80034800-80035800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:80034800-80035800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:80034800-80038200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:80035000-80037000	Enhancers	Placenta Amnion	Placenta Amnion
22	chr14:80035400-80036800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr14:80035400-80041200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr14:80035600-80035800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:80035600-80037400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr14:80035600-80041000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:80035600-80041200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr14:80035600-80041200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr14:80035600-80041200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr14:80035600-80041200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr14:80035800-80036800	Weak transcription	Brain Germinal Matrix	brain
32	chr14:80035800-80037200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:80035800-80037200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:80035800-80040000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:80036000-80037000	Weak transcription	Brain Hippocampus Middle	brain
36	chr14:80036200-80036600	Weak transcription	Brain Substantia Nigra	brain
37	chr14:80036600-80037200	Enhancers	Brain Substantia Nigra	brain
38	chr14:80036600-80038000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:80036800-80037000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr14:80036800-80038000	Enhancers	Brain Germinal Matrix	brain
41	chr14:80037000-80038000	Enhancers	Brain Hippocampus Middle	brain
42	chr14:80037000-80038000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr14:80037000-80044600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr14:80037200-80038000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr14:80037200-80038200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:80037200-80038400	Enhancers	Fetal Heart	heart
47	chr14:80037200-80038600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:80037400-80038000	Enhancers	Brain Cingulate Gyrus	brain
49	chr14:80037800-80038000	ZNF genes & repeats	Aorta	Aorta
50	chr14:80037800-80038000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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