Variant report

Variant	nsv564220
Chromosome Location	chr14:35428943-35430858
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35426260..35429015-chr14:35450690..35452638,2	K562	blood:
2	chr14:35430162..35434482-chr14:35434976..35439153,5	K562	blood:
3	chr14:35424726..35426528-chr14:35427204..35429694,2	K562	blood:

Variant related genes	Relation type
ENSG00000258704	chromatin interactions
ENSG00000100883	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192793037	chr14:35428960-35428961	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs556638170	chr14:35428966-35428967	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs527268434	chr14:35428980-35428981	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs375258321	chr14:35428985-35428986	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs572160929	chr14:35429054-35429055	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184331399	chr14:35429056-35429057	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148182314	chr14:35429126-35429127	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565585747	chr14:35429164-35429165	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141151480	chr14:35429190-35429191	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190640756	chr14:35429195-35429196	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559812600	chr14:35429198-35429199	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528994266	chr14:35429226-35429227	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs28459866	chr14:35429252-35429253	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs562174396	chr14:35429262-35429263	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145553907	chr14:35429269-35429270	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138160795	chr14:35429297-35429298	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10136059	chr14:35429325-35429326	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs533705118	chr14:35429366-35429367	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181739975	chr14:35429370-35429371	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567754786	chr14:35429396-35429397	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536779136	chr14:35429423-35429424	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567186924	chr14:35429443-35429444	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142543889	chr14:35429496-35429497	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576469714	chr14:35429519-35429520	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185927476	chr14:35429535-35429536	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10148463	chr14:35429546-35429547	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs558936718	chr14:35429603-35429604	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146008611	chr14:35429707-35429708	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549949640	chr14:35429713-35429714	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139580337	chr14:35429796-35429797	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573380380	chr14:35429807-35429808	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542287439	chr14:35429808-35429809	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367843415	chr14:35429812-35429813	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs36024417	chr14:35429850-35429851	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs531169162	chr14:35429895-35429896	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558455961	chr14:35429925-35429926	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544993920	chr14:35429939-35429940	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs8016566	chr14:35429947-35429948	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs188826856	chr14:35429970-35429971	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547600870	chr14:35429978-35429979	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567438724	chr14:35429983-35429984	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181460311	chr14:35429986-35429987	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186704057	chr14:35430032-35430033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191174664	chr14:35430033-35430034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10655100	chr14:35430093-35430094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538652617	chr14:35430110-35430111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148496164	chr14:35430136-35430137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541136557	chr14:35430199-35430200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558185435	chr14:35430209-35430210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534258177	chr14:35430283-35430284	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:133 , 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	chr14:35418400-35429600	Strong transcription	HepG2	liver
16	chr14:35418800-35449600	Weak transcription	Placenta	Placenta
17	chr14:35419000-35430000	Strong transcription	Liver	Liver
18	chr14:35419000-35445000	Weak transcription	Pancreas	Pancrea
19	chr14:35419200-35430800	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr14:35419400-35435000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr14:35419600-35434000	Weak transcription	K562	blood
22	chr14:35419600-35437000	Weak transcription	Left Ventricle	heart
23	chr14:35419600-35449600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:35419800-35435000	Weak transcription	NH-A	brain
25	chr14:35419800-35449600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr14:35420000-35440000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:35420000-35441200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr14:35420000-35450000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:35420000-35450000	Weak transcription	Small Intestine	intestine
30	chr14:35420200-35429600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr14:35420400-35450200	Weak transcription	Colon Smooth Muscle	Colon
32	chr14:35420800-35440600	Weak transcription	HSMMtube	muscle
33	chr14:35420800-35440600	Weak transcription	NHDF-Ad	bronchial
34	chr14:35421000-35431400	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr14:35421000-35437400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:35421200-35440600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:35421200-35449600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr14:35421200-35449600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr14:35421800-35450600	Weak transcription	Esophagus	oesophagus
40	chr14:35422000-35450000	Weak transcription	Brain Substantia Nigra	brain
41	chr14:35423200-35429800	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr14:35423800-35435000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr14:35423800-35443800	Weak transcription	Brain Hippocampus Middle	brain
44	chr14:35423800-35450000	Weak transcription	Colonic Mucosa	Colon
45	chr14:35424000-35437400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr14:35424000-35440600	Weak transcription	NHEK	skin
47	chr14:35424000-35441000	Weak transcription	NHLF	lung
48	chr14:35424000-35449600	Weak transcription	Brain Germinal Matrix	brain
49	chr14:35424000-35449600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr14:35424200-35434400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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