Variant report

Variant	nsv1047924
Chromosome Location	chr14:85826280-85868228
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:85838895-85839223	HepG2	liver:	n/a	chr14:85839054-85839065
2	CEBPB	chr14:85838887-85839223	IMR90	lung:	n/a	chr14:85839054-85839065
3	CEBPB	chr14:85858946-85859144	A549	lung:	n/a	chr14:85859034-85859045
4	CEBPB	chr14:85858903-85859183	HepG2	liver:	n/a	chr14:85859034-85859045
5	CEBPB	chr14:85859044-85859046	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr14:85826550-85826874	IMR90	lung:	n/a	chr14:85826707-85826718
7	CEBPB	chr14:85826522-85826866	HepG2	liver:	n/a	chr14:85826707-85826718
8	CEBPB	chr14:85849741-85850217	HepG2	liver:	n/a	chr14:85849882-85849893
9	CEBPB	chr14:85838911-85839228	A549	lung:	n/a	chr14:85839054-85839065
10	CEBPB	chr14:85826556-85826820	A549	lung:	n/a	chr14:85826707-85826718
11	CTCF	chr14:85827520-85827670	Caco-2	colon:	n/a	n/a
12	FOS	chr14:85849771-85849927	MCF10A-Er-Src	breast:	n/a	n/a
13	JUN	chr14:85868158-85868199	H1-hESC	embryonic stem cell:	n/a	n/a
14	JUND	chr14:85847596-85847773	HepG2	liver:	n/a	n/a
15	JUND	chr14:85851768-85851937	HepG2	liver:	n/a	chr14:85851841-85851852 chr14:85851842-85851852 chr14:85851844-85851851 chr14:85851842-85851851 chr14:85851843-85851852 chr14:85851843-85851851
16	MAFF	chr14:85829729-85829860	HepG2	liver:	n/a	chr14:85829767-85829785
17	MAFF	chr14:85850680-85850844	HepG2	liver:	n/a	chr14:85850736-85850754
18	MAFK	chr14:85850703-85850767	HepG2	liver:	n/a	chr14:85850737-85850752
19	MAFK	chr14:85829657-85829912	HepG2	liver:	n/a	chr14:85829769-85829780 chr14:85829769-85829785 chr14:85829768-85829782 chr14:85829769-85829784
20	MAFK	chr14:85829691-85829891	HepG2	liver:	n/a	chr14:85829769-85829780 chr14:85829769-85829785 chr14:85829768-85829782 chr14:85829769-85829784
21	MAFK	chr14:85829731-85829912	IMR90	lung:	n/a	chr14:85829769-85829780 chr14:85829769-85829785 chr14:85829768-85829782 chr14:85829769-85829784
22	MAFK	chr14:85850581-85850877	HepG2	liver:	n/a	chr14:85850737-85850752
23	MAFK	chr14:85850692-85850847	IMR90	lung:	n/a	chr14:85850737-85850752
24	MAX	chr14:85862799-85862921	A549	lung:	n/a	n/a
25	MAX	chr14:85853733-85853899	NB4	blood:	n/a	chr14:85853881-85853891
26	MYC	chr14:85850400-85850484	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr14:85839014-85839020	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr14:85858093-85858280	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr14:85841289-85841326	ProgFib	skin:	n/a	n/a
30	POLR2A	chr14:85843636-85843710	ProgFib	skin:	n/a	n/a
31	POLR2A	chr14:85857548-85857748	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr14:85841307-85841363	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr14:85848623-85848637	ProgFib	skin:	n/a	n/a
34	POLR2A	chr14:85847222-85847308	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr14:85828319-85828435	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr14:85826364-85826365	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr14:85862960-85863160	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr14:85831968-85831998	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr14:85867836-85868036	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr14:85858418-85858441	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr14:85849223-85849270	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr14:85848642-85848779	ProgFib	skin:	n/a	n/a
43	REST	chr14:85833546-85833610	GM12878	blood:	n/a	n/a
44	RFX5	chr14:85851496-85851611	K562	blood:	n/a	n/a
45	SPI1	chr14:85865070-85865632	HL-60	blood:	n/a	chr14:85865358-85865367 chr14:85865356-85865369 chr14:85865357-85865370
46	SPI1	chr14:85865125-85865491	HL-60	blood:	n/a	chr14:85865358-85865367 chr14:85865356-85865369 chr14:85865357-85865370
47	STAT3	chr14:85858416-85858417	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr14:85843416-85843616	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr14:85856801-85856839	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr14:85865567-85865570	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-497E19.2.1-2	chr14:85853619-85853698	ENSG00000258814
2	lnc-RP11-497E19.2.1-1	chr14:85860223-85860243	ENSG00000259107
3	lnc-RP11-497E19.2.1-1	chr14:85860259-85860303	NR_102738
4	lnc-RP11-497E19.2.1-1	chr14:85860255-85860303	XLOC_010889
5	lnc-RP11-497E19.2.1-2	chr14:85854961-85855109	ENSG00000258814
6	lnc-GALC-9	chr14:85864493-85864675	ENSG00000258902
7	lnc-RP11-497E19.2.1-1	chr14:85860292-85860303	ENSG00000259107
8	lnc-GALC-9	chr14:85830313-85830429	ENSG00000258902
9	lnc-GALC-9	chr14:85828801-85828884	ENSG00000258902
10	lnc-RP11-497E19.2.1-1	chr14:85860201-85860303	NONHSAT038113
11	lnc-RP11-497E19.2.1-5	chr14:85867661-85867767	l_1024_chr14:85867660-85893779_testes
12	lnc-RP11-497E19.2.1-1	chr14:85860202-85860303	XLOC_010889
13	lnc-RP11-497E19.2.1-2	chr14:85854524-85854805	ENSG00000258814

Variant related genes	Relation type
ENSG00000258814	TF binding region
LINC00911	TF binding region

Extended variants
information (count: 1852 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1852 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10141914	chr14:85826280-85826281	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541024558	chr14:85826311-85826312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113552188	chr14:85826331-85826332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147046233	chr14:85826340-85826341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201799364	chr14:85826341-85826342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574524725	chr14:85826407-85826408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112068007	chr14:85826439-85826440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192632032	chr14:85826447-85826448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575503143	chr14:85826454-85826455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17796813	chr14:85826499-85826500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7143281	chr14:85826542-85826543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs572941889	chr14:85826546-85826547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571782352	chr14:85826559-85826560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144402371	chr14:85826572-85826573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530229938	chr14:85826600-85826601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548807740	chr14:85826602-85826603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185052113	chr14:85826690-85826691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1951394	chr14:85826701-85826702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs529906438	chr14:85826714-85826715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148787411	chr14:85826717-85826718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79396983	chr14:85826839-85826840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187588426	chr14:85826892-85826893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115500542	chr14:85826893-85826894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115375993	chr14:85826897-85826898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568580312	chr14:85826904-85826905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535255872	chr14:85826951-85826952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77742103	chr14:85826969-85826970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575581785	chr14:85827003-85827004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539761887	chr14:85827043-85827044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199720230	chr14:85827059-85827060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558119301	chr14:85827069-85827070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572856522	chr14:85827096-85827097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540278941	chr14:85827099-85827100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561622504	chr14:85827107-85827108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141525952	chr14:85827197-85827198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369127323	chr14:85827199-85827200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150864593	chr14:85827223-85827224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563918829	chr14:85827231-85827232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531041606	chr14:85827263-85827264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565462589	chr14:85827268-85827269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140077037	chr14:85827320-85827321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9635179	chr14:85827347-85827348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564485548	chr14:85827364-85827365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114232879	chr14:85827399-85827400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546981656	chr14:85827412-85827413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568414374	chr14:85827446-85827447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145495395	chr14:85827453-85827454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191443331	chr14:85827465-85827466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184756701	chr14:85827525-85827526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79898264	chr14:85827532-85827533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85824600-85826400	Enhancers	HUVEC	blood vessel
2	chr14:85825200-85829800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:85827600-85827800	Enhancers	Fetal Lung	lung
4	chr14:85827800-85828800	Weak transcription	Fetal Lung	lung
5	chr14:85828800-85830200	Enhancers	Fetal Lung	lung
6	chr14:85829600-85830600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:85829800-85830400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:85829800-85830600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:85829800-85831000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:85830200-85831600	Weak transcription	Fetal Lung	lung
11	chr14:85830600-85831600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:85831600-85831800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:85831600-85832000	Enhancers	Fetal Lung	lung
14	chr14:85832000-85832400	Enhancers	Ovary	ovary
15	chr14:85832400-85840200	Weak transcription	Ovary	ovary
16	chr14:85844000-85844400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:85844400-85845400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:85845400-85847200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:85846400-85847200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:85846400-85847200	Enhancers	Fetal Brain Male	brain
21	chr14:85847200-85847600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:85847200-85847600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:85847200-85847600	Enhancers	Adipose Nuclei	Adipose
24	chr14:85847200-85847600	Active TSS	Osteobl	bone
25	chr14:85847200-85850200	Weak transcription	Fetal Brain Male	brain
26	chr14:85847400-85847600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:85847400-85848000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:85847400-85848000	Enhancers	Ovary	ovary
29	chr14:85847600-85847800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:85847600-85847800	Enhancers	Osteobl	bone
31	chr14:85847800-85848200	Enhancers	Fetal Muscle Leg	muscle
32	chr14:85848400-85848800	Enhancers	Gastric	stomach
33	chr14:85848600-85848800	Enhancers	Pancreas	Pancrea
34	chr14:85851800-85852000	Enhancers	HSMMtube	muscle
35	chr14:85853400-85853800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:85853600-85854000	Enhancers	Fetal Heart	heart
37	chr14:85853600-85854000	Enhancers	HSMMtube	muscle
38	chr14:85855800-85856000	Flanking Active TSS	Fetal Lung	lung
39	chr14:85856000-85858200	Enhancers	Fetal Lung	lung
40	chr14:85858200-85859000	Weak transcription	Fetal Lung	lung
41	chr14:85858400-85858800	Enhancers	Dnd41	blood
42	chr14:85859000-85859200	Enhancers	Fetal Lung	lung
43	chr14:85859200-85859600	Weak transcription	Fetal Lung	lung
44	chr14:85859600-85860000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:85859600-85860400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr14:85859600-85860400	Enhancers	Fetal Lung	lung
47	chr14:85859600-85860600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:85860200-85860600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:85860400-85862400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr14:85860400-85865400	Weak transcription	Fetal Lung	lung

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