Variant report

Variant	nsv1042666
Chromosome Location	chr14:40242900-40293500
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	chr14:40275224..40277569-chr14:40280640..40282204,2	K562	blood:
2	chr14:40275224..40277569-chr14:40280640..40282204,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTAGE5-6	chr14:40243550-40243655	NONHSAT036552
2	lnc-CTAGE5-7	chr14:40289870-40289937	NONHSAT036553
3	lnc-CTAGE5-6	chr14:40249746-40249897	NONHSAT036552

Extended variants
information (count: 567 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:567 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1958975	chr14:40242900-40242901	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs77749492	chr14:40242936-40242937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575643962	chr14:40242944-40242945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377738767	chr14:40243072-40243073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544956708	chr14:40243235-40243236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577285900	chr14:40243326-40243327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12890236	chr14:40243332-40243333	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs10135440	chr14:40243351-40243352	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs574590236	chr14:40243362-40243363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377547945	chr14:40243363-40243364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560658101	chr14:40243394-40243395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529660302	chr14:40243400-40243401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181996691	chr14:40243566-40243567	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs78772634	chr14:40243615-40243616	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs10135677	chr14:40243624-40243625	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs143697621	chr14:40245051-40245052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs569830861	chr14:40245066-40245067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs186063949	chr14:40245113-40245114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs552452966	chr14:40245171-40245172	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs565802023	chr14:40245226-40245227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs534634204	chr14:40245227-40245228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs554579803	chr14:40245228-40245229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs537570318	chr14:40245272-40245273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs34551549	chr14:40245317-40245318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs569192486	chr14:40245318-40245319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs574617832	chr14:40245440-40245441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs537132368	chr14:40245452-40245453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs557050833	chr14:40245473-40245474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs576590140	chr14:40245475-40245476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs545239753	chr14:40245609-40245610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs552686628	chr14:40245624-40245625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs539593777	chr14:40245646-40245647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs191291460	chr14:40245699-40245700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs76553792	chr14:40245702-40245703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs541061233	chr14:40245724-40245725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs560939365	chr14:40245736-40245737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs375269530	chr14:40245810-40245811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs530181355	chr14:40245826-40245827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs183203304	chr14:40245878-40245879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs563590490	chr14:40245895-40245896	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs144998638	chr14:40245916-40245917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs552992988	chr14:40245928-40245929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs552058588	chr14:40245997-40245998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs1958974	chr14:40246043-40246044	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs371587783	chr14:40246150-40246151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs565990689	chr14:40246177-40246178	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs534896077	chr14:40246182-40246183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs112753304	chr14:40246199-40246200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs112445856	chr14:40246221-40246222	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs537007114	chr14:40246239-40246240	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Congenital diaphragmatic hernia	21525063	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40241400-40243200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr14:40242200-40243000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr14:40242200-40243400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:40242600-40243000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr14:40242600-40243000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr14:40242800-40243200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr14:40245000-40247400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:40246200-40250000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:40249800-40250800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr14:40250000-40250600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr14:40250000-40250800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr14:40250000-40251000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr14:40250000-40251000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr14:40250000-40251000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr14:40250200-40250800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:40250200-40251000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr14:40250200-40251000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:40250400-40250800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:40250400-40251000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:40250400-40251000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:40250400-40251600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr14:40251600-40252600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:40252600-40255400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr14:40253400-40254200	Enhancers	Brain Germinal Matrix	brain
25	chr14:40253600-40254600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:40255400-40256200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr14:40256200-40256400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr14:40265600-40268000	Weak transcription	Aorta	Aorta
29	chr14:40266600-40267000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:40273000-40273400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr14:40273800-40274200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:40274200-40274400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:40275200-40275800	Enhancers	Placenta Amnion	Placenta Amnion

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