Variant report

Variant	nsv832776
Chromosome Location	chr14:40203172-40342229
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:40275224..40277569-chr14:40280640..40282204,2	K562	blood:
2	chr14:40275224..40277569-chr14:40280640..40282204,2	K562	blood:
3	chr14:40207698..40210630-chr14:40221939..40224720,2	MCF-7	breast:
4	chr14:40316700..40317200-chr8:48779245..48779746,2	Hela-S3	cervix:
5	chr1:28974867..28975558-chr14:40330913..40331413,2	Hela-S3	cervix:
6	chr14:40327383..40329209-chr14:40330906..40333385,2	K562	blood:
7	chr14:40207698..40210630-chr14:40221939..40224720,2	MCF-7	breast:
8	chr14:40327383..40329209-chr14:40330906..40333385,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTAGE5-6	chr14:40249746-40249897	NONHSAT036552
2	lnc-CTAGE5-7	chr14:40299652-40299792	NONHSAT036553
3	lnc-CTAGE5-7	chr14:40289870-40289937	NONHSAT036553
4	lnc-CTAGE5-6	chr14:40243550-40243655	NONHSAT036552

No data

Variant related genes	Relation type
ENSG00000270103	chromatin interactions

Extended variants
information (count: 2474 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:2474 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554687690	chr14:40203182-40203183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574761448	chr14:40203207-40203208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375452420	chr14:40203225-40203226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143471134	chr14:40203226-40203227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369388027	chr14:40203275-40203276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563801992	chr14:40203292-40203293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532216492	chr14:40203364-40203365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185288799	chr14:40203428-40203429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73285392	chr14:40203450-40203451	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs114384383	chr14:40203457-40203458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537677688	chr14:40203463-40203464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548432868	chr14:40203474-40203475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567996253	chr14:40203482-40203483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530502123	chr14:40203567-40203568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550447358	chr14:40203629-40203630	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs147168377	chr14:40203648-40203649	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs140883734	chr14:40203661-40203662	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs116504460	chr14:40203662-40203663	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs115843533	chr14:40203685-40203686	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs568626665	chr14:40203710-40203711	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs114320191	chr14:40203718-40203719	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs143234727	chr14:40203754-40203755	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs574787737	chr14:40203792-40203793	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs73285394	chr14:40203810-40203811	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs557035395	chr14:40203815-40203816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12435342	chr14:40203863-40203864	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs150885270	chr14:40203865-40203866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115426310	chr14:40203883-40203884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572683410	chr14:40203891-40203892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73285396	chr14:40203930-40203931	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs562011497	chr14:40203958-40203959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73285397	chr14:40203989-40203990	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs550558632	chr14:40203994-40203995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564023260	chr14:40204009-40204010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533081376	chr14:40204029-40204030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs80041266	chr14:40204033-40204034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72384780	chr14:40204072-40204073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs55862451	chr14:40204077-40204078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370540307	chr14:40204079-40204080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35570163	chr14:40204105-40204106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs56290329	chr14:40204171-40204172	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs566305560	chr14:40204200-40204201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535218200	chr14:40204206-40204207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139402018	chr14:40204276-40204277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568746526	chr14:40204283-40204284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537302093	chr14:40204307-40204308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150072160	chr14:40204311-40204312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145192801	chr14:40204323-40204324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1953185	chr14:40204334-40204335	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs553025216	chr14:40204336-40204337	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40201400-40203400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:40203000-40204200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr14:40203200-40204400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr14:40203400-40203600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr14:40203400-40203800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:40203400-40203800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:40203400-40204200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr14:40203600-40203800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr14:40203800-40204200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr14:40206400-40206600	ZNF genes & repeats	Pancreas	Pancrea
11	chr14:40206600-40208600	Weak transcription	Pancreas	Pancrea
12	chr14:40208600-40209400	Enhancers	Pancreas	Pancrea
13	chr14:40208800-40209400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr14:40208800-40209600	Enhancers	Adipose Nuclei	Adipose
15	chr14:40208800-40210000	Enhancers	Lung	lung
16	chr14:40209000-40209400	Enhancers	Aorta	Aorta
17	chr14:40209000-40209800	Enhancers	Left Ventricle	heart
18	chr14:40209200-40209400	Active TSS	Brain Substantia Nigra	brain
19	chr14:40209400-40209600	Flanking Active TSS	Brain Substantia Nigra	brain
20	chr14:40209400-40210000	ZNF genes & repeats	Pancreas	Pancrea
21	chr14:40209400-40211200	Weak transcription	Aorta	Aorta
22	chr14:40209800-40210000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr14:40210000-40210400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr14:40210000-40210800	Weak transcription	Pancreas	Pancrea
25	chr14:40215200-40215400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:40225600-40226000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr14:40226000-40231800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:40228600-40229000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:40231200-40231800	Enhancers	GM12878-XiMat	blood
30	chr14:40231200-40232000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr14:40231600-40231800	Flanking Active TSS	HepG2	liver
32	chr14:40231800-40232200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:40231800-40232200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr14:40231800-40232200	Flanking Bivalent TSS/Enh	HepG2	liver
35	chr14:40231800-40232400	Flanking Active TSS	GM12878-XiMat	blood
36	chr14:40232000-40232200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:40232000-40232400	ZNF genes & repeats	Pancreas	Pancrea
38	chr14:40232000-40232800	Enhancers	Primary B cells from peripheral blood	blood
39	chr14:40232000-40232800	Enhancers	Placenta	Placenta
40	chr14:40232200-40232600	Bivalent/Poised TSS	HepG2	liver
41	chr14:40232200-40232800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:40232400-40233000	Enhancers	GM12878-XiMat	blood
43	chr14:40232600-40233000	Flanking Bivalent TSS/Enh	HepG2	liver
44	chr14:40232800-40233000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:40233000-40233200	Bivalent Enhancer	HepG2	liver
46	chr14:40233000-40235400	Weak transcription	GM12878-XiMat	blood
47	chr14:40233000-40241600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:40235400-40236000	Enhancers	GM12878-XiMat	blood
49	chr14:40237400-40238000	Enhancers	Brain Germinal Matrix	brain
50	chr14:40237400-40238600	Enhancers	Cortex derived primary cultured neurospheres	brain

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