Variant report

Variant	nsv1051694
Chromosome Location	chr14:44418504-44441701
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:44429802..44430574-chr20:39327036..39327797,2	MCF-7	breast:
2	chr14:44430928..44433388-chr14:44437033..44439809,2	MCF-7	breast:
3	chr14:44430928..44433388-chr14:44437033..44439809,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229771	chromatin interactions

Extended variants
information (count: 227 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565648628	chr14:44418534-44418535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12896525	chr14:44418536-44418537	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs12896523	chr14:44418575-44418576	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs7161485	chr14:44418590-44418591	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs543192340	chr14:44418593-44418594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192192946	chr14:44418622-44418623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12896950	chr14:44418623-44418624	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs184566864	chr14:44418648-44418649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374829090	chr14:44418730-44418731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs367582818	chr14:44418763-44418764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190297396	chr14:44418808-44418809	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs564365692	chr14:44418839-44418840	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs531831459	chr14:44418860-44418861	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs371808800	chr14:44418867-44418868	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs182523561	chr14:44418886-44418887	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs144589580	chr14:44418959-44418960	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs139444903	chr14:44418962-44418963	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs548078719	chr14:44418967-44418968	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs566352483	chr14:44418969-44418970	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs372395781	chr14:44419011-44419012	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs186707341	chr14:44419074-44419075	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs142525031	chr14:44419163-44419164	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs370022606	chr14:44419194-44419195	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs576063065	chr14:44419196-44419197	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs116571686	chr14:44419234-44419235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573746018	chr14:44419263-44419264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571684630	chr14:44419290-44419291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552783477	chr14:44419320-44419321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577507140	chr14:44419362-44419363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116071951	chr14:44419364-44419365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189111597	chr14:44419385-44419386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564460653	chr14:44419422-44419423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527676090	chr14:44419436-44419437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547523767	chr14:44419445-44419446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369126652	chr14:44419525-44419526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536555982	chr14:44419554-44419555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146006195	chr14:44419582-44419583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562065844	chr14:44419589-44419590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139841780	chr14:44419606-44419607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556758931	chr14:44419669-44419670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560026516	chr14:44419687-44419688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533662357	chr14:44419718-44419719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570282839	chr14:44419764-44419765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142119263	chr14:44419771-44419772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28681168	chr14:44419782-44419783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs546392696	chr14:44419801-44419802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549034655	chr14:44419815-44419816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567006268	chr14:44419819-44419820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534453228	chr14:44419823-44419824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533571555	chr14:44419867-44419868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44417800-44418800	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr14:44417800-44419400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:44418000-44419600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr14:44418000-44419600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr14:44418000-44419600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:44418200-44419400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr14:44418400-44419200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr14:44418400-44419400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr14:44418400-44419600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:44418600-44419000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:44418600-44419200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:44418600-44419400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr14:44418600-44419400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:44418600-44419600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr14:44418800-44419200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr14:44419000-44419200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr14:44419200-44419600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr14:44419200-44422200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr14:44422200-44422400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr14:44425600-44427200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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