Variant report

Variant	nsv1054904
Chromosome Location	chr14:40965354-41044406
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	chr14:41022386..41024582-chr14:41027316..41029849,2	K562	blood:
2	chr14:41022386..41024582-chr14:41027316..41029849,2	K562	blood:

Extended variants
information (count: 375 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:375 , 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	rs2415611	chr14:40965354-40965355	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146015247	chr14:40965406-40965407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527871720	chr14:40965444-40965445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117315121	chr14:40965445-40965446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567658487	chr14:40965447-40965448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530169571	chr14:40965504-40965505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369236347	chr14:40965537-40965538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79685065	chr14:40965555-40965556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs61986609	chr14:40965575-40965576	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs139968276	chr14:40965594-40965595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558415808	chr14:40965602-40965603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2210309	chr14:40965604-40965605	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs534533911	chr14:40965630-40965631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554294368	chr14:40965664-40965665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574455409	chr14:40965779-40965780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1958864	chr14:40965787-40965788	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs377010444	chr14:40965809-40965810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1958865	chr14:40965818-40965819	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs545750365	chr14:40965829-40965830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565593553	chr14:40965830-40965831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572730489	chr14:40965871-40965872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17110833	chr14:40965881-40965882	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs561523701	chr14:40965899-40965900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563194350	chr14:40965908-40965909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10145405	chr14:40965998-40965999	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs563568296	chr14:40966007-40966008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532388891	chr14:40966024-40966025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552128588	chr14:40966027-40966028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182367331	chr14:40966044-40966045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148613569	chr14:40966086-40966087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141810584	chr14:40966121-40966122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146274590	chr14:40966127-40966128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186900244	chr14:40966182-40966183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568240365	chr14:40966194-40966195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs28419730	chr14:40966205-40966206	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs28698317	chr14:40966206-40966207	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs569723693	chr14:40966286-40966287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564748615	chr14:40966327-40966328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12886474	chr14:40966360-40966361	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs574638030	chr14:40980004-40980005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562603415	chr14:40980016-40980017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537124877	chr14:40980023-40980024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371637108	chr14:40980028-40980029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9323025	chr14:40980030-40980031	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs577185963	chr14:40980034-40980035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201364826	chr14:40980055-40980056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552995172	chr14:40980062-40980063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573054904	chr14:40980071-40980072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139585890	chr14:40980072-40980073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542089058	chr14:40980091-40980092	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40965200-40966000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr14:40965400-40966000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr14:40965400-40966400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr14:40965600-40966000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr14:40965600-40966000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr14:40980000-40980800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:40988800-40989200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr14:40994400-40994800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:40994400-40994800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:40994800-40997600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:40997600-40998000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:41042400-41042600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr14:41042400-41042600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr14:41042600-41046200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:41042800-41043800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr14:41043800-41044400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr14:41043800-41044400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr14:41043800-41044400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr14:41044000-41044200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:41044000-41044400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr14:41044000-41044400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr14:41044000-41044600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr14:41044200-41044400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:41044400-41045400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:41044400-41046000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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