Variant report

Variant	nsv1052541
Chromosome Location	chr14:79689336-79723628
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	chr14:79694608-79694965	IMR90	lung:	n/a	chr14:79694792-79694803
2	CEBPB	chr14:79692324-79692345	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr14:79694625-79694961	HepG2	liver:	n/a	chr14:79694792-79694803
4	CEBPB	chr14:79694628-79694956	H1-hESC	embryonic stem cell:	n/a	chr14:79694792-79694803
5	CEBPB	chr14:79694616-79694957	A549	lung:	n/a	chr14:79694792-79694803
6	CTCF	chr14:79722780-79722930	AG09309	skin:	n/a	n/a
7	CTCF	chr14:79722740-79722890	HRE	kidney:	n/a	n/a
8	CTCF	chr14:79709918-79710011	Spleen_OC	spleen:	n/a	n/a
9	CTCF	chr14:79722775-79722864	NHEK	skin:	n/a	n/a
10	CTCF	chr14:79722800-79722950	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr14:79722780-79722930	AG04450	lung:	n/a	n/a
12	CTCF	chr14:79722659-79722891	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr14:79722680-79722830	HEK293	kidney:	n/a	n/a
14	CTCF	chr14:79722695-79722914	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr14:79722740-79722890	RPTEC	kidney:	n/a	n/a
16	CTCF	chr14:79722758-79722900	HUVEC	blood vessel:	n/a	n/a
17	CTCF	chr14:79722780-79722930	GM12869	blood:	n/a	n/a
18	CTCF	chr14:79722813-79722866	HepG2	liver:	n/a	n/a
19	CTCF	chr14:79693784-79693816	Lung_OC	lung:	n/a	n/a
20	CTCF	chr14:79699700-79699850	BE2_C	brain:	n/a	n/a
21	CTCF	chr14:79722800-79722804	HepG2	liver:	n/a	n/a
22	CTCF	chr14:79722740-79722890	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr14:79722760-79722910	HMF	breast:	n/a	n/a
24	CTCF	chr14:79722640-79722790	HAc	cerebellar:	n/a	n/a
25	CTCF	chr14:79722780-79722862	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr14:79722767-79722860	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr14:79722795-79722888	LNCaP	prostate:	n/a	n/a
28	CTCF	chr14:79722780-79722930	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr14:79722740-79722890	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr14:79722774-79722912	Pancreas_OC	pancreas:	n/a	n/a
31	CTCF	chr14:79722680-79722830	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr14:79722713-79722956	Medullo	brain:	n/a	n/a
33	CTCF	chr14:79722720-79722870	HA-sp	spinal cord:	n/a	n/a
34	CTCF	chr14:79722740-79722890	SK-N-SH_RA	brain:	n/a	n/a
35	E2F4	chr14:79702664-79702878	MCF10A-Er-Src	breast:	n/a	n/a
36	EP300	chr14:79720344-79720918	SK-N-SH	brain:	n/a	chr14:79720442-79720456
37	EP300	chr14:79722912-79723173	SK-N-SH_RA	brain:	n/a	n/a
38	EP300	chr14:79695768-79696077	SK-N-SH_RA	brain:	n/a	n/a
39	FOSL2	chr14:79720333-79720746	SK-N-SH	brain:	n/a	n/a
40	GATA2	chr14:79722831-79723468	SH-SY5Y	brain:	n/a	n/a
41	GATA2	chr14:79708562-79709235	SH-SY5Y	brain:	n/a	chr14:79709018-79709034 chr14:79708659-79708667
42	GATA2	chr14:79709532-79709841	SH-SY5Y	brain:	n/a	n/a
43	GATA2	chr14:79722005-79722613	SH-SY5Y	brain:	n/a	n/a
44	GATA3	chr14:79720172-79721162	SK-N-SH	brain:	n/a	chr14:79721030-79721040
45	GATA3	chr14:79720267-79720976	SK-N-SH	brain:	n/a	n/a
46	GATA3	chr14:79709468-79709788	SH-SY5Y	brain:	n/a	n/a
47	GATA3	chr14:79722844-79723475	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr14:79697588-79697780	SH-SY5Y	brain:	n/a	n/a
49	GATA3	chr14:79708878-79709087	SH-SY5Y	brain:	n/a	chr14:79709018-79709034
50	GATA3	chr14:79721749-79722324	SH-SY5Y	brain:	n/a	chr14:79721988-79722009 chr14:79721995-79722004 chr14:79721991-79722007 chr14:79721994-79722004

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:79704504..79705275-chr6:56819303..56820074,2	HCT-116	colon:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DIO2-4	chr14:79713602-79713690	ENSG00000258662.1
2	lnc-DIO2-4	chr14:79715265-79715366	ENSG00000258662.1
3	lnc-DIO2-4	chr14:79714940-79715028	ENSG00000258662.1
4	lnc-DIO2-4	chr14:79713011-79713088	ENSG00000258662.1
5	lnc-DIO2-4	chr14:79713408-79713445	ENSG00000258662.1

Variant related genes	Relation type
ENSG00000258662	TF binding region
ENSG00000151914	chromatin interactions
ENSG00000151917	chromatin interactions

Extended variants
information (count: 941 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:941 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193060726	chr14:79691611-79691612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569819918	chr14:79691628-79691629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146360413	chr14:79691629-79691630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138439970	chr14:79691634-79691635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565839637	chr14:79691647-79691648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534499705	chr14:79691649-79691650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554617985	chr14:79691660-79691661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76483577	chr14:79691682-79691683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558069772	chr14:79691719-79691720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571558924	chr14:79691728-79691729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537092283	chr14:79691731-79691732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79680103	chr14:79691734-79691735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573794216	chr14:79691739-79691740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542676678	chr14:79691762-79691763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17596883	chr14:79691774-79691775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572634614	chr14:79691783-79691784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142981435	chr14:79691794-79691795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538848793	chr14:79691798-79691799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185776837	chr14:79691825-79691826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73325855	chr14:79691853-79691854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs80280160	chr14:79691871-79691872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575751715	chr14:79691873-79691874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563309608	chr14:79691921-79691922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529369657	chr14:79691947-79691948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549484943	chr14:79692024-79692025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188153472	chr14:79692062-79692063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536904227	chr14:79692147-79692148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191477356	chr14:79692148-79692149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551286010	chr14:79692161-79692162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183992282	chr14:79692178-79692179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144373418	chr14:79692192-79692193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78491393	chr14:79692250-79692251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188674458	chr14:79692289-79692290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374511197	chr14:79692298-79692299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540260741	chr14:79692299-79692300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7145315	chr14:79692312-79692313	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs148797580	chr14:79692324-79692325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7145792	chr14:79692353-79692354	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs7145504	chr14:79692416-79692417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs577934578	chr14:79692426-79692427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs8008654	chr14:79692430-79692431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs374870597	chr14:79692446-79692447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116015018	chr14:79692447-79692448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76742522	chr14:79692476-79692477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7145670	chr14:79692481-79692482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs6574502	chr14:79692485-79692486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs530916594	chr14:79692507-79692508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142270608	chr14:79692508-79692509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551566197	chr14:79692550-79692551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565041927	chr14:79692616-79692617	Weak transcription	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
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
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	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
Bladder cancer	21909424	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79691600-79691800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:79691800-79692400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:79691800-79695000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:79692000-79692200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:79692400-79695200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:79694800-79695400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:79695000-79695800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:79695200-79696400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:79695400-79703400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:79695600-79696400	Enhancers	Colon Smooth Muscle	Colon
11	chr14:79695800-79696600	Enhancers	Fetal Stomach	stomach
12	chr14:79696000-79696400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:79696400-79697400	Weak transcription	Colon Smooth Muscle	Colon
14	chr14:79697400-79697600	Enhancers	Colon Smooth Muscle	Colon
15	chr14:79697800-79698000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:79701600-79702000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:79708600-79709000	Enhancers	Colon Smooth Muscle	Colon
18	chr14:79708600-79709200	Enhancers	Fetal Muscle Leg	muscle
19	chr14:79708800-79709200	Enhancers	Fetal Lung	lung
20	chr14:79712600-79715400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr14:79714200-79715400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:79714400-79715000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:79714400-79715400	Enhancers	HSMMtube	muscle
24	chr14:79714600-79715000	Enhancers	NH-A	brain
25	chr14:79714600-79715200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:79714800-79715000	Enhancers	HSMM	muscle
27	chr14:79714800-79715600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr14:79715000-79715400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr14:79715000-79715400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr14:79715000-79720000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:79715000-79720200	Weak transcription	HSMM	muscle
32	chr14:79715000-79720200	Weak transcription	NH-A	brain
33	chr14:79715200-79715600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr14:79715200-79717400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:79717400-79717600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:79717400-79717800	Enhancers	Brain Substantia Nigra	brain
37	chr14:79719800-79720200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:79720000-79721400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:79720200-79720600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:79720200-79721200	Enhancers	NH-A	brain
41	chr14:79720200-79721400	Enhancers	HSMM	muscle
42	chr14:79720200-79721600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:79720200-79721600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr14:79720200-79721600	Enhancers	Osteobl	bone
45	chr14:79720200-79721800	Enhancers	HSMMtube	muscle
46	chr14:79720400-79721000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr14:79720400-79721000	Enhancers	Placenta	Placenta
48	chr14:79720400-79721200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr14:79720400-79722400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr14:79720600-79720800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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