Variant report

Variant	nsv1041373
Chromosome Location	chr14:46562320-46618618
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 300 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79465110	chr14:46563002-46563003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574244598	chr14:46563055-46563056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139189652	chr14:46563057-46563058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76009133	chr14:46563067-46563068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141462942	chr14:46563084-46563085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371851159	chr14:46563119-46563120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs55853002	chr14:46563145-46563146	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs545369387	chr14:46563147-46563148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150834055	chr14:46563166-46563167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530909313	chr14:46563188-46563189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542451187	chr14:46563225-46563226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190023618	chr14:46563235-46563236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536077871	chr14:46563260-46563261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546597804	chr14:46563294-46563295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181558204	chr14:46563304-46563305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532040528	chr14:46563323-46563324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549899936	chr14:46563330-46563331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184333373	chr14:46563331-46563332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs8005554	chr14:46563356-46563357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570060842	chr14:46563380-46563381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536362605	chr14:46563392-46563393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149329895	chr14:46563438-46563439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1957167	chr14:46563472-46563473	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs535185169	chr14:46563513-46563514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7142834	chr14:46563519-46563520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559040408	chr14:46563527-46563528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146262432	chr14:46563538-46563539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545118942	chr14:46563544-46563545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557313147	chr14:46563550-46563551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556130479	chr14:46576624-46576625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs567692704	chr14:46576626-46576627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs535192679	chr14:46576661-46576662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs577794517	chr14:46576673-46576674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs111954382	chr14:46576684-46576685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs374196146	chr14:46576699-46576700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs553436114	chr14:46576705-46576706	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs573131254	chr14:46576739-46576740	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs138516766	chr14:46576740-46576741	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs3037566	chr14:46576758-46576759	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs545654337	chr14:46576789-46576790	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs372748513	chr14:46581826-46581827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs189343304	chr14:46581852-46581853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs144227492	chr14:46581855-46581856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs148490406	chr14:46581880-46581881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs564217897	chr14:46581897-46581898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs73236309	chr14:46581902-46581903	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs181889586	chr14:46581938-46581939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs567692955	chr14:46581939-46581940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs184555398	chr14:46581965-46581966	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs189099507	chr14:46581986-46581987	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD
Cancer	19907438	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46563000-46563600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:46576600-46576800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:46581800-46582200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:46581800-46582200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:46592200-46592800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr14:46592200-46592800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr14:46592200-46592800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr14:46592400-46592800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr14:46592400-46592800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:46592400-46593000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr14:46592400-46593000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr14:46605000-46605400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:46605200-46607400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:46605200-46607400	Enhancers	HUVEC	blood vessel
15	chr14:46605400-46606000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr14:46605600-46606400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:46605800-46607800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:46607400-46609000	Weak transcription	HUVEC	blood vessel
19	chr14:46609000-46609800	Enhancers	HUVEC	blood vessel
20	chr14:46616200-46617200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:46616800-46617200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:46616800-46617200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:46616800-46617200	Enhancers	Brain Germinal Matrix	brain

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