Variant report

Variant	nsv826973
Chromosome Location	chr14:71518793-71519390
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549110314	chr14:71518811-71518812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567607623	chr14:71518831-71518832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536797214	chr14:71518869-71518870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75212527	chr14:71518946-71518947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534821159	chr14:71518975-71518976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547039899	chr14:71519022-71519023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571545230	chr14:71519025-71519026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78646318	chr14:71519027-71519028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78469366	chr14:71519030-71519031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs80312428	chr14:71519033-71519034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189664560	chr14:71519041-71519042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182597618	chr14:71519042-71519043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569213583	chr14:71519099-71519100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536508619	chr14:71519100-71519101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370643308	chr14:71519177-71519178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61990411	chr14:71519198-71519199	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs370187360	chr14:71519309-71519310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374764746	chr14:71519311-71519312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs66502320	chr14:71519312-71519313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572770125	chr14:71519343-71519344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61990412	chr14:71519353-71519354	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs147773617	chr14:71519360-71519361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71495800-71546200	Weak transcription	Stomach Mucosa	stomach
2	chr14:71497000-71554200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:71499600-71540800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:71503000-71526400	Weak transcription	Gastric	stomach
5	chr14:71503400-71524400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:71503400-71526600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:71503400-71527200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr14:71503600-71519400	Weak transcription	Colon Smooth Muscle	Colon
9	chr14:71506600-71520800	Strong transcription	Liver	Liver
10	chr14:71506800-71520400	Weak transcription	HSMMtube	muscle
11	chr14:71507000-71531600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr14:71508000-71524200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:71508000-71530800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:71508400-71524200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:71510000-71526800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:71510000-71531600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr14:71510000-71531800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr14:71510000-71532600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr14:71510200-71526400	Weak transcription	Right Ventricle	heart
20	chr14:71510200-71532000	Strong transcription	Primary B cells from peripheral blood	blood
21	chr14:71510200-71538200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr14:71510400-71530000	Strong transcription	Dnd41	blood
23	chr14:71510800-71531200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:71511000-71530600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr14:71511200-71526600	Weak transcription	Fetal Brain Male	brain
26	chr14:71511200-71526600	Weak transcription	Fetal Heart	heart
27	chr14:71511400-71519000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr14:71511400-71519400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr14:71511400-71524200	Weak transcription	Brain Substantia Nigra	brain
30	chr14:71511400-71527000	Weak transcription	Brain Angular Gyrus	brain
31	chr14:71511600-71518800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:71511600-71518800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:71511600-71519600	Weak transcription	Hela-S3	cervix
34	chr14:71511600-71521400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:71511600-71524200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr14:71511600-71524200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr14:71511600-71524200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr14:71511600-71524400	Weak transcription	Brain Germinal Matrix	brain
39	chr14:71511600-71524800	Weak transcription	Aorta	Aorta
40	chr14:71511600-71526400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr14:71511600-71526400	Weak transcription	Esophagus	oesophagus
42	chr14:71511600-71526400	Weak transcription	Small Intestine	intestine
43	chr14:71511600-71526400	Weak transcription	Spleen	Spleen
44	chr14:71511600-71527600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:71511600-71527800	Weak transcription	Colonic Mucosa	Colon
46	chr14:71511600-71540800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr14:71511600-71541000	Weak transcription	Pancreas	Pancrea
48	chr14:71511800-71527800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr14:71512200-71519000	Weak transcription	Brain Anterior Caudate	brain
50	chr14:71512200-71521400	Weak transcription	Brain Inferior Temporal Lobe	brain

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