Variant report

Variant	nsv564262
Chromosome Location	chr14:35430408-35431147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35430162..35434482-chr14:35434976..35439153,5	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564643585	chr14:35430445-35430446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs180917734	chr14:35430448-35430449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576135709	chr14:35430464-35430465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71409556	chr14:35430474-35430475	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs79439822	chr14:35430581-35430582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374234534	chr14:35430587-35430588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564933207	chr14:35430589-35430590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527571798	chr14:35430600-35430601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71121248	chr14:35430605-35430606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147743068	chr14:35430658-35430659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12886340	chr14:35430698-35430699	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs529867378	chr14:35430701-35430702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559945787	chr14:35430711-35430712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557487000	chr14:35430731-35430732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141058246	chr14:35430799-35430800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369600574	chr14:35430839-35430840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368245703	chr14:35430840-35430841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560506630	chr14:35430957-35430958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144804186	chr14:35430964-35430965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527570011	chr14:35430970-35430971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77490977	chr14:35430978-35430979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566037763	chr14:35431006-35431007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75614421	chr14:35431020-35431021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
24	rs12147861	chr14:35431033-35431034	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs568418118	chr14:35431060-35431061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537246897	chr14:35431085-35431086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531212519	chr14:35431103-35431104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557174925	chr14:35431116-35431117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Acute lymphoblastic leukemia	20067559	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
Esophageal cancer	20955586	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
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Glioma	24330732	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21858162	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35401000-35440400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr14:35411000-35434600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:35411800-35450000	Weak transcription	Brain Angular Gyrus	brain
4	chr14:35413200-35435200	Weak transcription	A549	lung
5	chr14:35413400-35449600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:35413600-35435000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr14:35414000-35435200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:35417400-35449400	Weak transcription	Dnd41	blood
9	chr14:35417600-35433600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr14:35417800-35436800	Weak transcription	Osteobl	bone
11	chr14:35417800-35438200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:35417800-35439200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:35418000-35450600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:35418200-35446000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:35418800-35449600	Weak transcription	Placenta	Placenta
16	chr14:35419000-35445000	Weak transcription	Pancreas	Pancrea
17	chr14:35419200-35430800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr14:35419400-35435000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:35419600-35434000	Weak transcription	K562	blood
20	chr14:35419600-35437000	Weak transcription	Left Ventricle	heart
21	chr14:35419600-35449600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:35419800-35435000	Weak transcription	NH-A	brain
23	chr14:35419800-35449600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr14:35420000-35440000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:35420000-35441200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr14:35420000-35450000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:35420000-35450000	Weak transcription	Small Intestine	intestine
28	chr14:35420400-35450200	Weak transcription	Colon Smooth Muscle	Colon
29	chr14:35420800-35440600	Weak transcription	HSMMtube	muscle
30	chr14:35420800-35440600	Weak transcription	NHDF-Ad	bronchial
31	chr14:35421000-35431400	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr14:35421000-35437400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:35421200-35440600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:35421200-35449600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr14:35421200-35449600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr14:35421800-35450600	Weak transcription	Esophagus	oesophagus
37	chr14:35422000-35450000	Weak transcription	Brain Substantia Nigra	brain
38	chr14:35423800-35435000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr14:35423800-35443800	Weak transcription	Brain Hippocampus Middle	brain
40	chr14:35423800-35450000	Weak transcription	Colonic Mucosa	Colon
41	chr14:35424000-35437400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr14:35424000-35440600	Weak transcription	NHEK	skin
43	chr14:35424000-35441000	Weak transcription	NHLF	lung
44	chr14:35424000-35449600	Weak transcription	Brain Germinal Matrix	brain
45	chr14:35424000-35449600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr14:35424200-35434400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:35424400-35437400	Weak transcription	Fetal Lung	lung
48	chr14:35424800-35432200	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr14:35425200-35441000	Weak transcription	Psoas Muscle	Psoas
50	chr14:35425800-35431200	Weak transcription	Rectal Mucosa Donor 29	rectum

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