Variant report

Variant	nsv1047433
Chromosome Location	chr14:79673222-79723628
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:123)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:123 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:79692324-79692345	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr14:79694628-79694956	H1-hESC	embryonic stem cell:	n/a	chr14:79694792-79694803
3	CEBPB	chr14:79694616-79694957	A549	lung:	n/a	chr14:79694792-79694803
4	CEBPB	chr14:79694608-79694965	IMR90	lung:	n/a	chr14:79694792-79694803
5	CEBPB	chr14:79694625-79694961	HepG2	liver:	n/a	chr14:79694792-79694803
6	CTCF	chr14:79722740-79722890	HRE	kidney:	n/a	n/a
7	CTCF	chr14:79722740-79722890	HCPEpiC	choroid plexus:	n/a	n/a
8	CTCF	chr14:79722780-79722862	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr14:79722780-79722930	HBMEC	blood vessel:	n/a	n/a
10	CTCF	chr14:79722767-79722860	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr14:79722720-79722870	HA-sp	spinal cord:	n/a	n/a
12	CTCF	chr14:79722780-79722930	GM12869	blood:	n/a	n/a
13	CTCF	chr14:79722780-79722930	AG04450	lung:	n/a	n/a
14	CTCF	chr14:79722800-79722950	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr14:79709918-79710011	Spleen_OC	spleen:	n/a	n/a
16	CTCF	chr14:79722780-79722930	AG09309	skin:	n/a	n/a
17	CTCF	chr14:79722813-79722866	HepG2	liver:	n/a	n/a
18	CTCF	chr14:79722775-79722864	NHEK	skin:	n/a	n/a
19	CTCF	chr14:79693784-79693816	Lung_OC	lung:	n/a	n/a
20	CTCF	chr14:79688368-79688438	GM10248	blood:	n/a	n/a
21	CTCF	chr14:79722659-79722891	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr14:79722740-79722890	RPTEC	kidney:	n/a	n/a
23	CTCF	chr14:79722695-79722914	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr14:79722740-79722890	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr14:79722680-79722830	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr14:79722713-79722956	Medullo	brain:	n/a	n/a
27	CTCF	chr14:79722758-79722900	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr14:79722740-79722890	WERI-Rb-1	eye:	n/a	n/a
29	CTCF	chr14:79722795-79722888	LNCaP	prostate:	n/a	n/a
30	CTCF	chr14:79722760-79722910	HMF	breast:	n/a	n/a
31	CTCF	chr14:79722800-79722804	HepG2	liver:	n/a	n/a
32	CTCF	chr14:79699700-79699850	BE2_C	brain:	n/a	n/a
33	CTCF	chr14:79722640-79722790	HAc	cerebellar:	n/a	n/a
34	CTCF	chr14:79722774-79722912	Pancreas_OC	pancreas:	n/a	n/a
35	CTCF	chr14:79722680-79722830	HEK293	kidney:	n/a	n/a
36	CTCF	chr14:79684740-79684890	NHDF-neo	bronchial:	n/a	n/a
37	E2F4	chr14:79702664-79702878	MCF10A-Er-Src	breast:	n/a	n/a
38	EP300	chr14:79722912-79723173	SK-N-SH_RA	brain:	n/a	n/a
39	EP300	chr14:79695768-79696077	SK-N-SH_RA	brain:	n/a	n/a
40	EP300	chr14:79720344-79720918	SK-N-SH	brain:	n/a	chr14:79720442-79720456
41	FOSL2	chr14:79720333-79720746	SK-N-SH	brain:	n/a	n/a
42	GATA2	chr14:79722005-79722613	SH-SY5Y	brain:	n/a	n/a
43	GATA2	chr14:79709532-79709841	SH-SY5Y	brain:	n/a	n/a
44	GATA2	chr14:79708562-79709235	SH-SY5Y	brain:	n/a	chr14:79709018-79709034 chr14:79708659-79708667
45	GATA2	chr14:79722831-79723468	SH-SY5Y	brain:	n/a	n/a
46	GATA3	chr14:79720267-79720976	SK-N-SH	brain:	n/a	n/a
47	GATA3	chr14:79708878-79709087	SH-SY5Y	brain:	n/a	chr14:79709018-79709034
48	GATA3	chr14:79722844-79723475	SH-SY5Y	brain:	n/a	n/a
49	GATA3	chr14:79680527-79681101	SK-N-SH	brain:	n/a	n/a
50	GATA3	chr14:79720172-79721162	SK-N-SH	brain:	n/a	chr14:79721030-79721040

No data

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

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

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

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

No data

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

Extended variants
information (count: 1124 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1124 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564059728	chr14:79673289-79673290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138334828	chr14:79673293-79673294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182217613	chr14:79673310-79673311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185251090	chr14:79673318-79673319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149126784	chr14:79673341-79673342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143239390	chr14:79673363-79673364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537163418	chr14:79673369-79673370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550767153	chr14:79673449-79673450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567725367	chr14:79673502-79673503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138864731	chr14:79673512-79673513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553120609	chr14:79673545-79673546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573224454	chr14:79673583-79673584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538891373	chr14:79673597-79673598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77266900	chr14:79673607-79673608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569244744	chr14:79673656-79673657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575279712	chr14:79673657-79673658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544318085	chr14:79673684-79673685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560848161	chr14:79673692-79673693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12435435	chr14:79673710-79673711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72688950	chr14:79673775-79673776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191380435	chr14:79673797-79673798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528768545	chr14:79673831-79673832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115024973	chr14:79673942-79673943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183135973	chr14:79673957-79673958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145244409	chr14:79673970-79673971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188562789	chr14:79673973-79673974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567030204	chr14:79674024-79674025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550934282	chr14:79674044-79674045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2127454	chr14:79674050-79674051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192941314	chr14:79674057-79674058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555217290	chr14:79674091-79674092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183908931	chr14:79674092-79674093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566633895	chr14:79674120-79674121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538951818	chr14:79674172-79674173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377613540	chr14:79674175-79674176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534409729	chr14:79674209-79674210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145994619	chr14:79674255-79674256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575589704	chr14:79674312-79674313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537479285	chr14:79674317-79674318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554540319	chr14:79674345-79674346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187924700	chr14:79674349-79674350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540281473	chr14:79674495-79674496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559267835	chr14:79674509-79674510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138701118	chr14:79674518-79674519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571420742	chr14:79674539-79674540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545173193	chr14:79674568-79674569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2370936	chr14:79674600-79674601	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs531223479	chr14:79674628-79674629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544324719	chr14:79674642-79674643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192698045	chr14:79674674-79674675	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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79673200-79673800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr14:79673400-79673800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:79673400-79674000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr14:79673400-79674000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:79673400-79674200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:79674000-79678000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:79676200-79676400	Enhancers	Fetal Intestine Large	intestine
8	chr14:79678000-79678600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:79678400-79678800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:79691600-79691800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:79691800-79692400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:79691800-79695000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:79692000-79692200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:79692400-79695200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:79694800-79695400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:79695000-79695800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:79695200-79696400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:79695400-79703400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:79695600-79696400	Enhancers	Colon Smooth Muscle	Colon
20	chr14:79695800-79696600	Enhancers	Fetal Stomach	stomach
21	chr14:79696000-79696400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:79696400-79697400	Weak transcription	Colon Smooth Muscle	Colon
23	chr14:79697400-79697600	Enhancers	Colon Smooth Muscle	Colon
24	chr14:79697800-79698000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:79701600-79702000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:79708600-79709000	Enhancers	Colon Smooth Muscle	Colon
27	chr14:79708600-79709200	Enhancers	Fetal Muscle Leg	muscle
28	chr14:79708800-79709200	Enhancers	Fetal Lung	lung
29	chr14:79712600-79715400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr14:79714200-79715400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:79714400-79715000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:79714400-79715400	Enhancers	HSMMtube	muscle
33	chr14:79714600-79715000	Enhancers	NH-A	brain
34	chr14:79714600-79715200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:79714800-79715000	Enhancers	HSMM	muscle
36	chr14:79714800-79715600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr14:79715000-79715400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr14:79715000-79715400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:79715000-79720000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr14:79715000-79720200	Weak transcription	HSMM	muscle
41	chr14:79715000-79720200	Weak transcription	NH-A	brain
42	chr14:79715200-79715600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr14:79715200-79717400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:79717400-79717600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:79717400-79717800	Enhancers	Brain Substantia Nigra	brain
46	chr14:79719800-79720200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr14:79720000-79721400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr14:79720200-79720600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:79720200-79721200	Enhancers	NH-A	brain
50	chr14:79720200-79721400	Enhancers	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links