Variant report

Variant	nsv901764
Chromosome Location	chr14:43328321-43354861
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 411 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:411 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561234060	chr14:43329024-43329025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189756855	chr14:43329030-43329031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181435249	chr14:43329046-43329047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571769825	chr14:43329047-43329048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7152469	chr14:43329113-43329114	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs11458015	chr14:43329130-43329131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557535688	chr14:43329182-43329183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558027192	chr14:43329184-43329185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7153663	chr14:43329196-43329197	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs536977526	chr14:43329199-43329200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75837553	chr14:43329217-43329218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368407789	chr14:43329227-43329228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573819804	chr14:43329281-43329282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150006678	chr14:43329287-43329288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145224554	chr14:43329369-43329370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533702964	chr14:43329392-43329393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577358304	chr14:43329401-43329402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554084642	chr14:43329422-43329423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544688064	chr14:43329431-43329432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563568396	chr14:43329477-43329478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35765899	chr14:43329517-43329518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531153788	chr14:43329523-43329524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10872967	chr14:43329662-43329663	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs561633512	chr14:43329679-43329680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528731165	chr14:43329743-43329744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185067333	chr14:43329754-43329755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78187871	chr14:43329814-43329815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10136294	chr14:43329816-43329817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs189730751	chr14:43329822-43329823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181755170	chr14:43329847-43329848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569225316	chr14:43329856-43329857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531077747	chr14:43329865-43329866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74049818	chr14:43329866-43329867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34218577	chr14:43329882-43329883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79298424	chr14:43329899-43329900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555231620	chr14:43329905-43329906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567555127	chr14:43329918-43329919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534593936	chr14:43329990-43329991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552583117	chr14:43330004-43330005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374085487	chr14:43330020-43330021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577195888	chr14:43330039-43330040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538218576	chr14:43330122-43330123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557032656	chr14:43330144-43330145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575207404	chr14:43330151-43330152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561779796	chr14:43330160-43330161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200091284	chr14:43330161-43330162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543207273	chr14:43330181-43330182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10133995	chr14:43330274-43330275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs148455561	chr14:43330287-43330288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540914538	chr14:43330318-43330319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43329000-43329200	Enhancers	Placenta Amnion	Placenta Amnion
2	chr14:43329200-43330400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:43330400-43331600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr14:43331200-43331600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:43331200-43331600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:43331200-43331800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:43337800-43338200	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr14:43341800-43342400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr14:43341800-43342600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:43341800-43342600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:43342000-43342400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr14:43342000-43342400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr14:43342000-43342400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr14:43342000-43342400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr14:43342200-43342400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:43342200-43342600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr14:43349000-43349600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:43349200-43349600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:43349600-43353600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:43352400-43354400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:43352600-43353000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:43352800-43354000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr14:43352800-43354200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:43353400-43353800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:43353400-43354000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr14:43353400-43354200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr14:43353600-43354000	Enhancers	NHEK	skin
28	chr14:43353600-43354200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:43353800-43354200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:43354400-43355400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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