Variant report

Variant	nsv977621
Chromosome Location	chr14:47621524-47653218
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 476 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:476 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578248592	chr14:47623626-47623627	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs573669045	chr14:47623636-47623637	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs542779001	chr14:47623670-47623671	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs386777177	chr14:47623678-47623679	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs559565648	chr14:47623683-47623684	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs143026334	chr14:47623684-47623685	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs372594543	chr14:47623685-47623686	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs528327226	chr14:47623686-47623687	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs143639133	chr14:47623694-47623695	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs148275417	chr14:47623698-47623699	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs567967053	chr14:47623714-47623715	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs529276360	chr14:47623764-47623765	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs565223416	chr14:47623785-47623786	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs200426724	chr14:47623845-47623846	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs386777178	chr14:47623846-47623847	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs61995369	chr14:47623847-47623848	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs550709854	chr14:47623887-47623888	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs567717681	chr14:47623963-47623964	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs536371651	chr14:47623972-47623973	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs546721192	chr14:47623999-47624000	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs375819170	chr14:47624019-47624020	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77585539	chr14:47624069-47624070	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184833006	chr14:47624085-47624086	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558822821	chr14:47624114-47624115	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189601677	chr14:47624126-47624127	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537014915	chr14:47624129-47624130	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553840520	chr14:47624156-47624157	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556702517	chr14:47624193-47624194	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115043268	chr14:47624196-47624197	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542728880	chr14:47624197-47624198	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1120919	chr14:47624206-47624207	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs74351395	chr14:47624239-47624240	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192199189	chr14:47624246-47624247	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565144194	chr14:47624281-47624282	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111764940	chr14:47624288-47624289	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549065376	chr14:47624302-47624303	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150784226	chr14:47624323-47624324	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566066495	chr14:47624350-47624351	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561106250	chr14:47624364-47624365	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530144793	chr14:47624424-47624425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs139298040	chr14:47624432-47624433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs184577909	chr14:47624461-47624462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs142491791	chr14:47624462-47624463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs112581120	chr14:47624496-47624497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs562985471	chr14:47624498-47624499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs145962299	chr14:47624549-47624550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs139850900	chr14:47624552-47624553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs555277202	chr14:47624553-47624554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs567138603	chr14:47624592-47624593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs563944816	chr14:47624602-47624603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Schizophrenia	20967226	CNVD
Gastric cancer	18160780	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47623600-47624000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:47623600-47625000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:47623800-47624400	Enhancers	Spleen	Spleen
4	chr14:47625000-47629600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:47629600-47629800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:47635800-47637200	Enhancers	Fetal Kidney	kidney
7	chr14:47640000-47641600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr14:47640800-47641400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:47640800-47641600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:47641000-47641400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
11	chr14:47641000-47641600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:47651600-47652000	Enhancers	HUVEC	blood vessel
13	chr14:47652000-47655200	Weak transcription	HUVEC	blood vessel

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