Variant report

Variant	nsv565427
Chromosome Location	chr14:85855155-85896161
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:409)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:26)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:409 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:85881699-85881931	HepG2	liver:	n/a	n/a
2	ATF3	chr14:85881535-85882098	A549	lung:	n/a	n/a
3	ATF3	chr14:85881481-85882124	A549	lung:	n/a	n/a
4	BCL3	chr14:85881403-85882031	A549	lung:	n/a	n/a
5	BCL3	chr14:85881410-85882116	A549	lung:	n/a	n/a
6	BCL3	chr14:85883159-85883668	A549	lung:	n/a	n/a
7	BHLHE40	chr14:85883298-85883524	A549	lung:	n/a	n/a
8	BRCA1	chr14:85881756-85882111	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr14:85858946-85859144	A549	lung:	n/a	chr14:85859034-85859045
10	CEBPB	chr14:85881630-85881991	IMR90	lung:	n/a	n/a
11	CEBPB	chr14:85883032-85883542	IMR90	lung:	n/a	n/a
12	CEBPB	chr14:85887575-85887787	A549	lung:	n/a	n/a
13	CEBPB	chr14:85875790-85876083	Hela-S3	cervix:	n/a	chr14:85875943-85875956
14	CEBPB	chr14:85882967-85883745	A549	lung:	n/a	n/a
15	CEBPB	chr14:85887528-85888280	IMR90	lung:	n/a	n/a
16	CEBPB	chr14:85887666-85888246	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr14:85881661-85882037	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr14:85883059-85883574	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr14:85877704-85878010	HepG2	liver:	n/a	chr14:85877844-85877855
20	CEBPB	chr14:85858903-85859183	HepG2	liver:	n/a	chr14:85859034-85859045
21	CEBPB	chr14:85859044-85859046	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr14:85883006-85883536	A549	lung:	n/a	n/a
23	CHD1	chr14:85881690-85882218	IMR90	lung:	n/a	n/a
24	CHD2	chr14:85881627-85882024	Hela-S3	cervix:	n/a	n/a
25	CREB1	chr14:85881666-85881995	A549	lung:	n/a	n/a
26	CREB1	chr14:85881686-85882004	A549	lung:	n/a	n/a
27	CTCF	chr14:85892040-85892190	NHDF-neo	bronchial:	n/a	n/a
28	CTCF	chr14:85891940-85892090	AG04449	skin:	n/a	n/a
29	CTCF	chr14:85881720-85881870	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr14:85881630-85881788	Lung_OC	lung:	n/a	n/a
31	CTCF	chr14:85881700-85881850	HepG2	liver:	n/a	n/a
32	CTCF	chr14:85881627-85881900	Fibrobl	skin:	n/a	n/a
33	CTCF	chr14:85891960-85892110	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr14:85881700-85881850	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr14:85881627-85881920	A549	lung:	n/a	n/a
36	CTCF	chr14:85881740-85881890	HCM	heart:	n/a	n/a
37	CTCF	chr14:85881627-85881926	NHEK	skin:	n/a	n/a
38	CTCF	chr14:85891840-85891990	HMF	breast:	n/a	n/a
39	CTCF	chr14:85891820-85891970	NHDF-neo	bronchial:	n/a	n/a
40	CTCF	chr14:85881700-85881850	RPTEC	kidney:	n/a	n/a
41	CTCF	chr14:85892040-85892190	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr14:85891940-85892090	HEEpiC	esophagus:	n/a	n/a
43	CTCF	chr14:85881700-85881850	AoAF	blood vessel:	n/a	n/a
44	CTCF	chr14:85891920-85892070	AG04450	lung:	n/a	n/a
45	CTCF	chr14:85881695-85881836	HepG2	liver:	n/a	n/a
46	CTCF	chr14:85891920-85892070	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr14:85881620-85881770	NHLF	lung:	n/a	n/a
48	CTCF	chr14:85881660-85881810	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr14:85881663-85881877	MCF-7	breast:	n/a	n/a
50	CTCF	chr14:85891960-85892110	HPAF	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:85889551..85891832-chr14:85903089..85906086,2	MCF-7	breast:
2	chr14:85892365..85894475-chr14:85895714..85897702,2	MCF-7	breast:
3	chr1:184112901..184113401-chr14:85878375..85878904,2	MCF-7	breast:
4	chr14:85881371..85882361-chr14:85994552..85995082,2	MCF-7	breast:
5	chr14:85892365..85894475-chr14:85895714..85897702,2	MCF-7	breast:

(count:26 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-497E19.2.1-1	chr14:85874245-85874380	NONHSAT038117
2	lnc-RP11-497E19.2.1-1	chr14:85886028-85886418	NR_102738
3	lnc-RP11-497E19.2.1-1	chr14:85886028-85886426	XLOC_010889
4	lnc-RP11-497E19.2.1-1	chr14:85874247-85874380	ENSG00000259107
5	lnc-RP11-497E19.2.1-5	chr14:85867661-85867767	l_1024_chr14:85867660-85893779_testes
6	lnc-RP11-497E19.2.1-1	chr14:85886028-85886416	NONHSAT038117
7	lnc-RP11-497E19.2.1-1	chr14:85881204-85881292	XLOC_010889
8	lnc-RP11-497E19.2.1-1	chr14:85886028-85886426	XLOC_010889
9	lnc-RP11-497E19.2.1-1	chr14:85860255-85860303	XLOC_010889
10	lnc-RP11-497E19.2.1-5	chr14:85868405-85868565	l_1024_chr14:85867660-85893779_testes
11	lnc-RP11-497E19.2.1-1	chr14:85860259-85860303	NR_102738
12	lnc-RP11-497E19.2.1-5	chr14:85893591-85893779	l_1024_chr14:85867660-85893779_testes
13	lnc-RP11-497E19.2.1-1	chr14:85860202-85860303	XLOC_010889
14	lnc-RP11-497E19.2.1-1	chr14:85874226-85874384	NONHSAT038113
15	lnc-RP11-497E19.2.1-1	chr14:85860292-85860303	ENSG00000259107
16	lnc-RP11-497E19.2.1-1	chr14:85874247-85874380	XLOC_010889
17	lnc-RP11-497E19.2.1-1	chr14:85886028-85886418	ENSG00000259107
18	lnc-RP11-497E19.2.1-1	chr14:85886027-85886426	NONHSAT038113
19	lnc-RP11-497E19.2.1-5	chr14:85872507-85872583	l_1024_chr14:85867660-85893779_testes
20	lnc-RP11-497E19.2.1-1	chr14:85860201-85860303	NONHSAT038113
21	lnc-GALC-9	chr14:85864493-85864675	ENSG00000258902
22	lnc-RP11-497E19.2.1-1	chr14:85860223-85860243	ENSG00000259107
23	lnc-RP11-497E19.2.1-1	chr14:85886028-85886396	ENSG00000259107
24	lnc-GALC-9	chr14:85872261-85872324	ENSG00000258902
25	lnc-RP11-497E19.2.1-1	chr14:85881203-85881292	NONHSAT038113
26	lnc-RP11-497E19.2.1-1	chr14:85886028-85886426	XLOC_010889

No data

Variant related genes	Relation type
LINC00911	TF binding region
ENSG00000258945	chromatin interactions
ERGIC3	miRNA target sites
POMC	miRNA target sites

Extended variants
information (count: 1561 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1561 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543340504	chr14:85855812-85855813	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs187463280	chr14:85855819-85855820	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs531601690	chr14:85855837-85855838	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs543472761	chr14:85855839-85855840	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs78036226	chr14:85855845-85855846	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs542018542	chr14:85855876-85855877	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs115216848	chr14:85855883-85855884	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs112699441	chr14:85855915-85855916	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs374446886	chr14:85855981-85855982	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs529939760	chr14:85855991-85855992	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs192649548	chr14:85856008-85856009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1951407	chr14:85856024-85856025	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs561889552	chr14:85856071-85856072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116540529	chr14:85856082-85856083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570585422	chr14:85856097-85856098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538043789	chr14:85856104-85856105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111713646	chr14:85856124-85856125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs56229076	chr14:85856186-85856187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540435261	chr14:85856198-85856199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185041397	chr14:85856217-85856218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187580287	chr14:85856275-85856276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568395648	chr14:85856296-85856297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572645974	chr14:85856302-85856303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149072588	chr14:85856320-85856321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs36092603	chr14:85856369-85856370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113448630	chr14:85856512-85856513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112015108	chr14:85856560-85856561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116120544	chr14:85856571-85856572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559125137	chr14:85856614-85856615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532481091	chr14:85856616-85856617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373709296	chr14:85856643-85856644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116234370	chr14:85856667-85856668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529905692	chr14:85856693-85856694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113120014	chr14:85856706-85856707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577442807	chr14:85856708-85856709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115311441	chr14:85856726-85856727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148155755	chr14:85856736-85856737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369069262	chr14:85856746-85856747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141946104	chr14:85856747-85856748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150679056	chr14:85856777-85856778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17121075	chr14:85856796-85856797	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs192718939	chr14:85856809-85856810	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs113826080	chr14:85856823-85856824	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs10498590	chr14:85856849-85856850	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs111746270	chr14:85856867-85856868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576304708	chr14:85856876-85856877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537380679	chr14:85856950-85856951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35895853	chr14:85856961-85856962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144754065	chr14:85856972-85856973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577217054	chr14:85857049-85857050	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21569311	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85855800-85856000	Flanking Active TSS	Fetal Lung	lung
2	chr14:85856000-85858200	Enhancers	Fetal Lung	lung
3	chr14:85858200-85859000	Weak transcription	Fetal Lung	lung
4	chr14:85858400-85858800	Enhancers	Dnd41	blood
5	chr14:85859000-85859200	Enhancers	Fetal Lung	lung
6	chr14:85859200-85859600	Weak transcription	Fetal Lung	lung
7	chr14:85859600-85860000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:85859600-85860400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr14:85859600-85860400	Enhancers	Fetal Lung	lung
10	chr14:85859600-85860600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:85860200-85860600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:85860400-85862400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:85860400-85865400	Weak transcription	Fetal Lung	lung
14	chr14:85862400-85862800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr14:85862600-85863000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr14:85862600-85863400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:85862800-85863400	Enhancers	Fetal Muscle Leg	muscle
18	chr14:85863000-85863400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:85863000-85864000	Enhancers	Fetal Heart	heart
20	chr14:85863400-85865000	Weak transcription	Fetal Muscle Leg	muscle
21	chr14:85863600-85863800	Enhancers	HSMMtube	muscle
22	chr14:85863800-85865400	Weak transcription	HSMMtube	muscle
23	chr14:85864000-85865600	Weak transcription	Fetal Heart	heart
24	chr14:85864400-85864600	Enhancers	HSMM	muscle
25	chr14:85864600-85865400	Weak transcription	HSMM	muscle
26	chr14:85865000-85868600	Enhancers	Fetal Muscle Leg	muscle
27	chr14:85865200-85865800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr14:85865200-85865800	Enhancers	Aorta	Aorta
29	chr14:85865200-85866200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:85865400-85865600	Enhancers	HSMM	muscle
31	chr14:85865400-85865800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:85865400-85865800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr14:85865400-85866200	Enhancers	Fetal Lung	lung
34	chr14:85865400-85867400	Enhancers	HSMMtube	muscle
35	chr14:85865600-85865800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:85865600-85865800	Enhancers	Right Atrium	heart
37	chr14:85865600-85866000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:85865600-85866000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:85865600-85866000	Enhancers	NHEK	skin
40	chr14:85865600-85866200	Enhancers	Ovary	ovary
41	chr14:85865600-85866400	Enhancers	Fetal Heart	heart
42	chr14:85865800-85871000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr14:85866000-85867600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:85866200-85867400	Weak transcription	Ovary	ovary
45	chr14:85866200-85867600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr14:85866200-85867600	Weak transcription	Fetal Lung	lung
47	chr14:85866400-85867600	Weak transcription	Fetal Heart	heart
48	chr14:85867000-85867800	Enhancers	Colon Smooth Muscle	Colon
49	chr14:85867600-85867800	Enhancers	Ovary	ovary
50	chr14:85867600-85868000	Enhancers	Adipose Nuclei	Adipose

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