Variant report

Variant	nsv1037999
Chromosome Location	chr14:78966643-79026875
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78995983..78997857-chr14:79010289..79012168,2	K562	blood:
2	chr14:78995983..78997857-chr14:79010289..79012168,2	K562	blood:
3	chr14:79022120..79024903-chr14:79027918..79029627,2	K562	blood:
4	chr14:78987037..78987855-chr14:79028593..79029433,2	MCF-7	breast:

Extended variants
information (count: 686 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:686 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185667197	chr14:78971243-78971244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570894357	chr14:78971244-78971245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536976162	chr14:78971257-78971258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4903776	chr14:78971272-78971273	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs372470214	chr14:78971295-78971296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536451375	chr14:78971314-78971315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552865934	chr14:78971371-78971372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190144184	chr14:78971413-78971414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12435691	chr14:78971514-78971515	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs181938840	chr14:78971532-78971533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369248574	chr14:78971533-78971534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543999403	chr14:78971534-78971535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141553179	chr14:78975833-78975834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571900497	chr14:78975834-78975835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150905027	chr14:78975852-78975853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190726993	chr14:78975853-78975854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192362118	chr14:78975858-78975859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139239679	chr14:78975860-78975861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149987944	chr14:78975877-78975878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35810359	chr14:78975879-78975880	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs77154792	chr14:78975952-78975953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568709589	chr14:78975980-78975981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534400774	chr14:78976010-78976011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547962368	chr14:78976014-78976015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570583565	chr14:78976119-78976120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551582784	chr14:78984205-78984206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182897731	chr14:78984254-78984255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539964622	chr14:78984281-78984282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556705815	chr14:78984318-78984319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570118195	chr14:78984324-78984325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372476698	chr14:78984340-78984341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147550974	chr14:78984486-78984487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141961445	chr14:78984499-78984500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188062195	chr14:78984525-78984526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558370510	chr14:78984529-78984530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113749205	chr14:78984537-78984538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375424922	chr14:78984543-78984544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145839707	chr14:78984551-78984552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528919517	chr14:78984604-78984605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189688783	chr14:78984609-78984610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116232487	chr14:78984614-78984615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558903878	chr14:78984652-78984653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148224952	chr14:78984663-78984664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182077849	chr14:78984675-78984676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551249237	chr14:78984685-78984686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571480248	chr14:78984691-78984692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530621476	chr14:78984789-78984790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187775092	chr14:78984806-78984807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570178527	chr14:78984812-78984813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146576664	chr14:78984827-78984828	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Acute lymphoblastic leukemia	21098271	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
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	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
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22209245	CNVD
Prostate cancer	22553170	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78971200-78971600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr14:78975800-78976200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:78984200-78985000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr14:78984200-78985200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr14:78984200-78985200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr14:78984400-78984800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr14:78984400-78985000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr14:78987200-78987600	Enhancers	Brain Germinal Matrix	brain
9	chr14:78991600-78991800	Enhancers	Brain Germinal Matrix	brain
10	chr14:78991800-78996600	Weak transcription	Brain Germinal Matrix	brain
11	chr14:78996600-78996800	Enhancers	Brain Germinal Matrix	brain
12	chr14:79000600-79001000	Enhancers	Duodenum Mucosa	Duodenum
13	chr14:79001000-79001400	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr14:79001000-79001400	Enhancers	Fetal Intestine Large	intestine
15	chr14:79001400-79002600	Enhancers	Duodenum Mucosa	Duodenum
16	chr14:79008400-79008800	Enhancers	Liver	Liver
17	chr14:79012600-79013400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr14:79013000-79013400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr14:79014800-79015200	Enhancers	Duodenum Mucosa	Duodenum
20	chr14:79014800-79015200	Enhancers	Small Intestine	intestine
21	chr14:79014800-79015400	Enhancers	Fetal Intestine Large	intestine
22	chr14:79015200-79017600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr14:79015400-79016600	Weak transcription	Fetal Intestine Large	intestine
24	chr14:79016600-79018400	Enhancers	Fetal Intestine Large	intestine
25	chr14:79017600-79017800	Enhancers	Duodenum Mucosa	Duodenum
26	chr14:79022200-79022600	Enhancers	Brain Germinal Matrix	brain
27	chr14:79022400-79022600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:79022600-79023000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:79023000-79023400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:79023000-79023400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
31	chr14:79023200-79023400	Enhancers	HSMM	muscle
32	chr14:79023400-79032200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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