Variant report

Variant	esv3383556
Chromosome Location	chr14:66963487-66963708
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF3	chr14:66963640-66963781	GM12878	blood:	n/a	n/a
2	RUNX3	chr14:66963622-66963922	GM12878	blood:	n/a	n/a
3	RUNX3	chr14:66963600-66963919	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:66963628-66963678	HRE	kidney:	n/a
2	chr14:66963628-66963678	HRPEpiC	eye:	n/a
3	chr14:66963628-66963678	Jurkat	blood:	n/a
4	chr14:66963628-66963678	HUVEC	blood vessel:	n/a
5	chr14:66963628-66963678	GM06990	blood:	n/a
6	chr14:66963628-66963678	ECC-1	luminal epithelium:	n/a
7	chr14:66963628-66963678	GM12891	blood:	n/a
8	chr14:66963628-66963678	A549	lung:	n/a
9	chr14:66963628-66963678	PANC-1	pancreas:	n/a
10	chr14:66963628-66963678	HL-60	blood:	n/a
11	chr14:66963628-66963678	NT2-D1	testis:	n/a
12	chr14:66963628-66963678	LNCaP	prostate:	n/a
13	chr14:66963628-66963678	BE2_C	brain:	n/a
14	chr14:66963628-66963678	HCM	heart:	n/a
15	chr14:66963628-66963678	K562	blood:	n/a
16	chr14:66963628-66963678	IMR90	lung:	fetal
17	chr14:66963628-66963678	GM12878	blood:	n/a
18	chr14:66963628-66963678	SKMC	muscle:	n/a
19	chr14:66963628-66963678	PrEC	prostate:	n/a
20	chr14:66963628-66963678	AoSMC	blood vessel:	n/a
21	chr14:66963628-66963678	GM12892	blood:	n/a
22	chr14:66963628-66963678	HPAEpiC	pulmonary alveolar:	n/a
23	chr14:66963628-66963678	AG04449	skin:	fetal
24	chr14:66963628-66963678	MCF10A-Er-Src	breast:	n/a
25	chr14:66963628-66963678	PFSK-1	brain:	n/a
26	chr14:66963628-66963678	AG04450	lung:	fetal
27	chr14:66963628-66963678	T-47D	breast:	n/a
28	chr14:66963628-66963678	AG10803	skin:	n/a
29	chr14:66963628-66963678	U87	brain:	n/a
30	chr14:66963628-66963678	H1-hESC	embryonic stem cell:	embryo
31	chr14:66963628-66963678	HCT-116	colon:	n/a
32	chr14:66963628-66963678	HCPEpiC	choroid plexus:	n/a
33	chr14:66963628-66963678	MCF-7	breast:	n/a
34	chr14:66963628-66963678	RPTEC	kidney:	n/a
35	chr14:66963628-66963678	NHDF-neo	bronchial:	n/a
36	chr14:66963628-66963678	SAEC	small airway:	n/a
37	chr14:66963628-66963678	BJ	skin:	n/a
38	chr14:66963628-66963678	GM19239	blood:	n/a
39	chr14:66963628-66963678	ProgFib	skin:	n/a
40	chr14:66963628-66963678	HRCEpiC	kidney:	n/a
41	chr14:66963628-66963678	HIPEpiC	eye:	n/a
42	chr14:66963628-66963678	CMK	blood:	n/a
43	chr14:66963628-66963678	HCF	heart:	n/a
44	chr14:66963628-66963678	Hepatocyte	liver:	n/a
45	chr14:66963628-66963678	NB4	blood:	n/a
46	chr14:66963628-66963678	AG09319	gingival:	n/a
47	chr14:66963628-66963678	SK-N-MC	brain:	n/a
48	chr14:66963628-66963678	Caco-2	colon:	n/a
49	chr14:66963628-66963678	SK-N-SH	brain:	n/a
50	chr14:66963628-66963678	NH-A	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:66958930..66964157-chr14:66971787..66977680,8	K562	blood:
2	chr14:66962226..66964678-chr14:66974039..66976474,4	MCF-7	breast:
3	chr14:66961069..66963949-chr14:66975127..66976775,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPHN-1	chr14:66963545-66963585	NR_024339
2	lnc-GPHN-1	chr14:66963401-66963585	ENSG00000196553
3	lnc-GPHN-1	chr14:66963545-66963585	ENSG00000196553
4	lnc-GPHN-1	chr14:66963545-66963585	ENSG00000196553
5	lnc-GPHN-1	chr14:66963545-66963585	ENSG00000196553
6	lnc-GPHN-1	chr14:66963545-66963585	NONHSAT037423
7	lnc-GPHN-1	chr14:66963545-66963585	NR_110307
8	lnc-GPHN-1	chr14:66963545-66963585	NR_024338

No data

Variant related genes	Relation type
ENSG00000258561	TF binding region
ENSG00000258561	CpG island
ENSG00000258561	chromatin interactions
ENSG00000171723	chromatin interactions

Extended variants
information (count: 9 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546433256	chr14:66963500-66963501	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs144089663	chr14:66963527-66963528	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs535184046	chr14:66963558-66963559	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs554996419	chr14:66963590-66963591	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs146466118	chr14:66963596-66963597	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs116904225	chr14:66963624-66963625	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs139864604	chr14:66963628-66963629	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs577494841	chr14:66963656-66963657	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs3818771	chr14:66963679-66963680	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66952200-66973400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:66954400-66970200	Weak transcription	Gastric	stomach
3	chr14:66958600-66965600	Weak transcription	Small Intestine	intestine
4	chr14:66962000-66964600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr14:66962200-66963800	Enhancers	Dnd41	blood
6	chr14:66962200-66964000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr14:66962200-66964000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr14:66962400-66963800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr14:66962400-66963800	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr14:66962400-66964000	Flanking Active TSS	Liver	Liver
11	chr14:66962400-66964400	Enhancers	Primary T cells from cord blood	blood
12	chr14:66962600-66963600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr14:66962600-66963600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr14:66962800-66964000	Enhancers	Stomach Mucosa	stomach
15	chr14:66962800-66964600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:66962800-66973600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr14:66962800-66974000	Weak transcription	Aorta	Aorta
18	chr14:66963000-66963600	Enhancers	HepG2	liver
19	chr14:66963000-66964800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr14:66963000-66965000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:66963000-66965200	Weak transcription	K562	blood
22	chr14:66963000-66973600	Weak transcription	Colon Smooth Muscle	Colon
23	chr14:66963200-66963600	Active TSS	Duodenum Mucosa	Duodenum
24	chr14:66963200-66963600	Enhancers	NHEK	skin
25	chr14:66963200-66963800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:66963200-66965200	Weak transcription	Adipose Nuclei	Adipose
27	chr14:66963400-66963600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr14:66963400-66963800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:66963400-66963800	Flanking Active TSS	GM12878-XiMat	blood
30	chr14:66963400-66964200	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr14:66963600-66964200	Enhancers	Primary B cells from peripheral blood	blood
32	chr14:66963600-66965200	Enhancers	Duodenum Mucosa	Duodenum
33	chr14:66963600-66968000	Weak transcription	HepG2	liver
34	chr14:66963600-66973800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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