Variant report

Variant	nsv1047531
Chromosome Location	chr14:44658786-44742909
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	chr14:44659162..44661192-chr14:44662497..44664945,3	MCF-7	breast:
2	chr14:44659162..44661192-chr14:44662497..44664945,3	MCF-7	breast:

Extended variants
information (count: 353 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:353 , 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	rs142366522	chr14:44660602-44660603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552841571	chr14:44660691-44660692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4906521	chr14:44660710-44660711	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs150518841	chr14:44660714-44660715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75508840	chr14:44660741-44660742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571974920	chr14:44660751-44660752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541043641	chr14:44660754-44660755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74440859	chr14:44660795-44660796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139963851	chr14:44660813-44660814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573903927	chr14:44660823-44660824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541411266	chr14:44660947-44660948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574404305	chr14:44660999-44661000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367878256	chr14:44661005-44661006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76656157	chr14:44661022-44661023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543168493	chr14:44661036-44661037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533237010	chr14:44661057-44661058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572883478	chr14:44661066-44661067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563506623	chr14:44661113-44661114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181717767	chr14:44661128-44661129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549365973	chr14:44661179-44661180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7148396	chr14:44661182-44661183	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs371716099	chr14:44661224-44661225	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs534363470	chr14:44661236-44661237	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs113050687	chr14:44661237-44661238	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs571396731	chr14:44661284-44661285	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs538705532	chr14:44661317-44661318	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs557206148	chr14:44661334-44661335	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs1953477	chr14:44661363-44661364	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs368463690	chr14:44661373-44661374	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs149863486	chr14:44661421-44661422	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs73335064	chr14:44661512-44661513	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs573081570	chr14:44661539-44661540	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs185677085	chr14:44661551-44661552	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs74855499	chr14:44661562-44661563	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs528439201	chr14:44661596-44661597	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs74592124	chr14:44661608-44661609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545059040	chr14:44661636-44661637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563542071	chr14:44661664-44661665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531055577	chr14:44661737-44661738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140090560	chr14:44661752-44661753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377313691	chr14:44661757-44661758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561456426	chr14:44661763-44661764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528758603	chr14:44661765-44661766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546297350	chr14:44661794-44661795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568754884	chr14:44665202-44665203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535738059	chr14:44665231-44665232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142485889	chr14:44665319-44665320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs74049423	chr14:44665331-44665332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545395115	chr14:44665343-44665344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1953478	chr14:44665382-44665383	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

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
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ovarian cancer	21781307	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44660600-44661800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:44661200-44661600	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr14:44661600-44661800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr14:44665200-44665800	Enhancers	Fetal Brain Male	brain
5	chr14:44672600-44673200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:44672800-44673600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:44673000-44673800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr14:44673000-44674000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr14:44673200-44673800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:44673200-44674400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr14:44673200-44674400	Enhancers	Fetal Heart	heart
12	chr14:44673200-44675800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr14:44673400-44675400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr14:44673600-44673800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:44673600-44674000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:44673600-44674000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr14:44673600-44674600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr14:44673800-44674200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:44673800-44674400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:44674000-44674600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:44674000-44675000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr14:44674200-44674400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:44674400-44674800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:44674400-44675000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr14:44674600-44675600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:44675000-44675200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr14:44675000-44676000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr14:44675600-44675800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr14:44675600-44675800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr14:44696800-44697200	Enhancers	Adipose Nuclei	Adipose
31	chr14:44698200-44701400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr14:44698400-44698600	Weak transcription	Adipose Nuclei	Adipose
33	chr14:44698800-44699200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
34	chr14:44698800-44699400	ZNF genes & repeats	Pancreas	Pancrea
35	chr14:44701400-44701600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:44733600-44734600	Enhancers	Fetal Intestine Small	intestine
37	chr14:44733600-44735000	Enhancers	Fetal Intestine Large	intestine

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