Variant report

Variant	nsv1249
Chromosome Location	chr14:40595618-40635037
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:40608613..40610201-chr14:40616714..40618460,3	MCF-7	breast:
2	chr14:40608918..40609568-chr14:40618396..40619170,2	MCF-7	breast:
3	chr14:40608613..40610201-chr14:40616714..40618460,3	MCF-7	breast:
4	chr14:40608918..40609568-chr14:40618396..40619170,2	MCF-7	breast:

Extended variants
information (count: 190 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77616149	chr14:40624000-40624001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs151130406	chr14:40624027-40624028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551468959	chr14:40624039-40624040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140100841	chr14:40624079-40624080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs62014715	chr14:40624101-40624102	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs547118745	chr14:40624107-40624108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567262259	chr14:40624111-40624112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189375464	chr14:40624123-40624124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112655370	chr14:40624124-40624125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575545305	chr14:40624168-40624169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569073475	chr14:40624183-40624184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142685467	chr14:40630247-40630248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs569110529	chr14:40630271-40630272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs111932631	chr14:40630286-40630287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs11620727	chr14:40630314-40630315	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs374669867	chr14:40630322-40630323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs11620657	chr14:40630368-40630369	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs534228180	chr14:40630423-40630424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs78946806	chr14:40630479-40630480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs145924723	chr14:40630489-40630490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs375343425	chr14:40630511-40630512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs532758895	chr14:40630526-40630527	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs529600319	chr14:40630539-40630540	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs536614236	chr14:40630561-40630562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs75813272	chr14:40630600-40630601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs544886876	chr14:40630636-40630637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs544745241	chr14:40630639-40630640	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs181105097	chr14:40630679-40630680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs139818345	chr14:40630689-40630690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs111594532	chr14:40630697-40630698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs371442176	chr14:40630701-40630702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs186056636	chr14:40630774-40630775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs143260769	chr14:40630826-40630827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs201874334	chr14:40630843-40630844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs145539115	chr14:40630870-40630871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs148555020	chr14:40630887-40630888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs142940044	chr14:40630903-40630904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs571762341	chr14:40630933-40630934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs566648301	chr14:40630934-40630935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs151093288	chr14:40630946-40630947	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs561046032	chr14:40630967-40630968	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs373630176	chr14:40630969-40630970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs191811416	chr14:40630990-40630991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs183931093	chr14:40631018-40631019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs188880653	chr14:40631068-40631069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs190866881	chr14:40631109-40631110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs182147041	chr14:40631116-40631117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs555045242	chr14:40631141-40631142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs572064645	chr14:40631142-40631143	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs35000711	chr14:40631183-40631184	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

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
Schizophrenia	23813976	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40624000-40624200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:40630200-40634600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:40631400-40632400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:40633200-40633600	Active TSS	HSMM	muscle

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