Variant report

Variant	nsv1048349
Chromosome Location	chr14:46308264-46351159
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:46346207..46348483-chr14:46349392..46352093,2	K562	blood:
2	chr14:46185495..46186349-chr14:46307923..46308469,2	MCF-7	breast:
3	chr14:46308036..46308555-chr14:46409283..46409960,2	MCF-7	breast:
4	chr14:46346207..46348483-chr14:46349392..46352093,2	K562	blood:

Extended variants
information (count: 383 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141162989	chr14:46308266-46308267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548144330	chr14:46308289-46308290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114649849	chr14:46308312-46308313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376695573	chr14:46308330-46308331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554236930	chr14:46308364-46308365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77477900	chr14:46308367-46308368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536736906	chr14:46308395-46308396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554841677	chr14:46308444-46308445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537175321	chr14:46308445-46308446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573055730	chr14:46308449-46308450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564794640	chr14:46308523-46308524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540552306	chr14:46308574-46308575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564996610	chr14:46308593-46308594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576780958	chr14:46308597-46308598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374645988	chr14:46308610-46308611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543812306	chr14:46308623-46308624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557081208	chr14:46308638-46308639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577155648	chr14:46308659-46308660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562501357	chr14:46308690-46308691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117280048	chr14:46308718-46308719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376010144	chr14:46308750-46308751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566686498	chr14:46309225-46309226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533930743	chr14:46309231-46309232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567163874	chr14:46309261-46309262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199803622	chr14:46309303-46309304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577106677	chr14:46309322-46309323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544484791	chr14:46309436-46309437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571010408	chr14:46309445-46309446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112275778	chr14:46309456-46309457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1160674	chr14:46309466-46309467	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs139415953	chr14:46309495-46309496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181615484	chr14:46309538-46309539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150049697	chr14:46309541-46309542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528666537	chr14:46309617-46309618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540518738	chr14:46309631-46309632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184228057	chr14:46309736-46309737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188547203	chr14:46309738-46309739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563509420	chr14:46309742-46309743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551237484	chr14:46309766-46309767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558643387	chr14:46309768-46309769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569183197	chr14:46309776-46309777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7142366	chr14:46309802-46309803	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs548707715	chr14:46309831-46309832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566921955	chr14:46309850-46309851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368129037	chr14:46309854-46309855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7141258	chr14:46309899-46309900	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs7141266	chr14:46309903-46309904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181177969	chr14:46309932-46309933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186106797	chr14:46309935-46309936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7141610	chr14:46309953-46309954	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	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
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46307800-46308800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr14:46308000-46308600	Enhancers	Fetal Brain Male	brain
3	chr14:46308200-46308600	Enhancers	GM12878-XiMat	blood
4	chr14:46309200-46310000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:46315200-46316600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr14:46333600-46334600	Active TSS	GM12878-XiMat	blood
7	chr14:46334600-46334800	Flanking Active TSS	GM12878-XiMat	blood
8	chr14:46334800-46335000	Active TSS	GM12878-XiMat	blood
9	chr14:46335000-46335600	Enhancers	GM12878-XiMat	blood
10	chr14:46335600-46335800	Flanking Active TSS	GM12878-XiMat	blood
11	chr14:46335600-46336200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:46335800-46336000	Enhancers	GM12878-XiMat	blood
13	chr14:46336000-46336200	Flanking Active TSS	GM12878-XiMat	blood
14	chr14:46336200-46336400	Active TSS	GM12878-XiMat	blood
15	chr14:46336200-46336800	Enhancers	Fetal Heart	heart
16	chr14:46336200-46338600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr14:46336400-46336600	Flanking Active TSS	GM12878-XiMat	blood
18	chr14:46336600-46337000	Active TSS	GM12878-XiMat	blood
19	chr14:46337000-46337600	Flanking Active TSS	GM12878-XiMat	blood
20	chr14:46337600-46337800	Enhancers	GM12878-XiMat	blood
21	chr14:46337800-46338800	Flanking Active TSS	GM12878-XiMat	blood
22	chr14:46338800-46339000	Enhancers	GM12878-XiMat	blood
23	chr14:46339000-46339200	Weak transcription	GM12878-XiMat	blood
24	chr14:46339200-46339800	ZNF genes & repeats	GM12878-XiMat	blood

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