Variant report

Variant	nsv1054430
Chromosome Location	chr14:40449227-40568841
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:40501516..40503145-chr14:40505667..40507473,2	MCF-7	breast:
2	chr14:40524963..40526539-chr14:40536036..40538411,2	MCF-7	breast:
3	chr14:40501516..40503145-chr14:40505667..40507473,2	MCF-7	breast:
4	chr14:40496039..40499019-chr14:40499728..40502198,2	MCF-7	breast:
5	chr14:40457857..40458829-chr14:40749466..40750494,4	MCF-7	breast:
6	chr14:40524963..40526539-chr14:40536036..40538411,2	MCF-7	breast:
7	chr14:40496039..40499019-chr14:40499728..40502198,2	MCF-7	breast:
8	chr14:40534564..40535391-chr2:55398502..55399026,2	MCF-7	breast:

No data

Extended variants
information (count: 1844 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1844 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190740064	chr14:40453402-40453403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545773083	chr14:40453416-40453417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559405277	chr14:40453431-40453432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527958937	chr14:40453434-40453435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79267576	chr14:40453472-40453473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561468379	chr14:40453510-40453511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139562280	chr14:40453513-40453514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530315360	chr14:40453520-40453521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528637913	chr14:40453540-40453541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546636599	chr14:40453544-40453545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73282949	chr14:40453547-40453548	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs555119046	chr14:40453556-40453557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529144994	chr14:40453578-40453579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142206363	chr14:40453581-40453582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146758816	chr14:40453585-40453586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539226284	chr14:40453592-40453593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182216284	chr14:40453664-40453665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184964854	chr14:40453674-40453675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534731914	chr14:40453688-40453689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs365586	chr14:40453714-40453715	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs112244864	chr14:40453739-40453740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537201728	chr14:40453753-40453754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533897043	chr14:40453756-40453757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556886205	chr14:40453757-40453758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576976458	chr14:40453758-40453759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539559085	chr14:40453781-40453782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553130345	chr14:40453797-40453798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572858499	chr14:40453799-40453800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35058162	chr14:40453800-40453801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565839162	chr14:40459612-40459613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534777092	chr14:40459690-40459691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554484145	chr14:40459694-40459695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574448126	chr14:40459713-40459714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138534387	chr14:40459783-40459784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557126488	chr14:40459792-40459793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576897686	chr14:40459799-40459800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545858403	chr14:40459801-40459802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199534714	chr14:40459872-40459873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190337648	chr14:40459892-40459893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144135432	chr14:40459895-40459896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558471976	chr14:40459915-40459916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561303838	chr14:40459953-40459954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539420445	chr14:40460087-40460088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530267141	chr14:40460105-40460106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549855953	chr14:40460106-40460107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563490859	chr14:40460125-40460126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532329879	chr14:40460162-40460163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569432894	chr14:40460198-40460199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs438079	chr14:40460206-40460207	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs5808058	chr14:40460209-40460210	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	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
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Schizophrenia	23813976	CNVD
Intracranial tumor	22048656	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40453400-40453800	Enhancers	Fetal Muscle Leg	muscle
2	chr14:40459600-40460600	Enhancers	Fetal Kidney	kidney
3	chr14:40460600-40460800	Weak transcription	Fetal Kidney	kidney
4	chr14:40460800-40461000	Enhancers	Fetal Kidney	kidney
5	chr14:40463400-40466800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:40464800-40467800	Weak transcription	Pancreas	Pancrea
7	chr14:40465000-40466000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:40466800-40470600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:40470600-40470800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:40470800-40471200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:40471200-40471800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:40471800-40478400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:40473400-40474600	Enhancers	Fetal Kidney	kidney
14	chr14:40478400-40479600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:40479600-40480800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:40480800-40481600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:40481600-40482800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:40488200-40489600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:40488400-40489600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr14:40489400-40489600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:40489600-40489800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:40489600-40495200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:40489800-40490600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:40490600-40491400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:40494000-40494200	Enhancers	Fetal Intestine Small	intestine
26	chr14:40494000-40495400	Enhancers	Fetal Intestine Large	intestine
27	chr14:40494800-40495000	Enhancers	Fetal Intestine Small	intestine
28	chr14:40495200-40496000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:40495400-40496600	Weak transcription	Fetal Intestine Large	intestine
30	chr14:40498200-40498600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr14:40498200-40498600	Enhancers	Colon Smooth Muscle	Colon
32	chr14:40499800-40501200	Weak transcription	Fetal Intestine Large	intestine
33	chr14:40501200-40504800	Enhancers	Fetal Intestine Large	intestine
34	chr14:40501400-40501600	Weak transcription	Fetal Intestine Small	intestine
35	chr14:40501600-40501800	Enhancers	Fetal Intestine Small	intestine
36	chr14:40501800-40502400	Weak transcription	Fetal Intestine Small	intestine
37	chr14:40502400-40502600	Enhancers	Fetal Intestine Small	intestine
38	chr14:40502600-40503600	Weak transcription	Fetal Intestine Small	intestine
39	chr14:40503600-40504200	Enhancers	Fetal Intestine Small	intestine
40	chr14:40511000-40511200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:40520600-40520800	Enhancers	Fetal Brain Male	brain
42	chr14:40520800-40522000	Weak transcription	Fetal Brain Male	brain
43	chr14:40522000-40523400	Enhancers	Fetal Brain Male	brain
44	chr14:40522600-40523000	Enhancers	Fetal Stomach	stomach
45	chr14:40522600-40523200	Enhancers	Fetal Muscle Leg	muscle
46	chr14:40522600-40523400	Enhancers	H9 Cell Line	embryonic stem cell
47	chr14:40522600-40523400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr14:40522800-40523200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr14:40522800-40523400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr14:40522800-40523600	Enhancers	HUES48 Cell Line	embryonic stem cell

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