Variant report

Variant	nsv983960
Chromosome Location	chr14:66977837-66980662
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr14:66978599-66979019	GM12878	blood:	n/a	n/a
2	E2F4	chr14:66979665-66980239	MCF10A-Er-Src	breast:	n/a	n/a
3	EBF1	chr14:66978581-66978971	GM12878	blood:	n/a	n/a
4	EBF1	chr14:66977408-66978042	GM12878	blood:	n/a	chr14:66977608-66977619
5	EP300	chr14:66978642-66979077	GM12878	blood:	n/a	n/a
6	EP300	chr14:66978540-66979062	GM12878	blood:	n/a	n/a
7	IRF1	chr14:66980185-66980380	K562	blood:	n/a	chr14:66980300-66980311 chr14:66980295-66980309
8	MXI1	chr14:66978570-66979086	GM12878	blood:	n/a	n/a
9	NFYB	chr14:66978785-66979024	GM12878	blood:	n/a	n/a
10	POLR2A	chr14:66980552-66980677	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr14:66978082-66978281	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr14:66979107-66979180	MCF10A-Er-Src	breast:	n/a	n/a
13	SIN3A	chr14:66978639-66978666	GM12878	blood:	n/a	n/a
14	SPI1	chr14:66979938-66980314	HL-60	blood:	n/a	n/a
15	SPI1	chr14:66978767-66978937	GM12878	blood:	n/a	n/a
16	TBL1XR1	chr14:66978642-66979030	GM12878	blood:	n/a	n/a
17	TBP	chr14:66978625-66979097	GM12878	blood:	n/a	n/a
18	USF2	chr14:66978574-66978878	GM12878	blood:	n/a	n/a
19	ZNF143	chr14:66978741-66978752	GM12878	blood:	n/a	n/a
20	ZNF384	chr14:66978473-66979121	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:66980127-66980177	HRCEpiC	kidney:	n/a
2	chr14:66980127-66980177	AG10803	skin:	n/a
3	chr14:66980127-66980177	U87	brain:	n/a
4	chr14:66980127-66980177	GM12892	blood:	n/a
5	chr14:66980127-66980177	GM19239	blood:	n/a
6	chr14:66980127-66980177	HMEC	breast:	n/a
7	chr14:66980127-66980177	HEK293	kidney:	embryo
8	chr14:66980127-66980177	HIPEpiC	eye:	n/a
9	chr14:66980127-66980177	NT2-D1	testis:	n/a
10	chr14:66980127-66980177	NHBE	bronchial:	n/a
11	chr14:66980127-66980177	MCF-7	breast:	n/a
12	chr14:66980127-66980177	CMK	blood:	n/a
13	chr14:66980127-66980177	HCT-116	colon:	n/a
14	chr14:66980127-66980177	SK-N-MC	brain:	n/a
15	chr14:66980127-66980177	AG09309	skin:	n/a
16	chr14:66980127-66980177	Jurkat	blood:	n/a
17	chr14:66980127-66980177	ECC-1	luminal epithelium:	n/a
18	chr14:66980127-66980177	NB4	blood:	n/a
19	chr14:66980127-66980177	GM06990	blood:	n/a
20	chr14:66980127-66980177	HepG2	liver:	n/a
21	chr14:66980127-66980177	Hela-S3	cervix:	n/a
22	chr14:66980127-66980177	AG09319	gingival:	n/a
23	chr14:66980127-66980177	SKMC	muscle:	n/a
24	chr14:66980127-66980177	Hepatocyte	liver:	n/a
25	chr14:66980127-66980177	HUVEC	blood vessel:	n/a
26	chr14:66980127-66980177	GM12891	blood:	n/a
27	chr14:66980127-66980177	T-47D	breast:	n/a
28	chr14:66980127-66980177	SK-N-SH	brain:	n/a
29	chr14:66980127-66980177	SK-N-SH_RA	brain:	n/a
30	chr14:66980127-66980177	HRE	kidney:	n/a
31	chr14:66980127-66980177	IMR90	lung:	fetal
32	chr14:66980127-66980177	A549	lung:	n/a
33	chr14:66980127-66980177	RPTEC	kidney:	n/a
34	chr14:66980127-66980177	NH-A	brain:	n/a
35	chr14:66980127-66980177	HEEpiC	esophagus:	n/a
36	chr14:66980127-66980177	SAEC	small airway:	n/a
37	chr14:66980127-66980177	HCPEpiC	choroid plexus:	n/a
38	chr14:66980127-66980177	HNPCEpiC	eye:	n/a
39	chr14:66980127-66980177	K562	blood:	n/a
40	chr14:66980127-66980177	LNCaP	prostate:	n/a
41	chr14:66980127-66980177	NHDF-neo	bronchial:	n/a
42	chr14:66980127-66980177	ProgFib	skin:	n/a
43	chr14:66980127-66980177	H1-hESC	embryonic stem cell:	embryo
44	chr14:66980127-66980177	AG04449	skin:	fetal
45	chr14:66980127-66980177	GM12878	blood:	n/a
46	chr14:66980127-66980177	BJ	skin:	n/a
47	chr14:66980127-66980177	HRPEpiC	eye:	n/a
48	chr14:66980127-66980177	HCM	heart:	n/a
49	chr14:66980127-66980177	AG04450	lung:	fetal
50	chr14:66980127-66980177	HCF	heart:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:66979852..66981724-chr14:67004183..67006810,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258561	TF binding region
ENSG00000258561	CpG island

Extended variants
information (count: 73 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560026959	chr14:66977861-66977862	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs369316174	chr14:66977907-66977908	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs371579104	chr14:66977910-66977911	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs527929814	chr14:66977914-66977915	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs528973909	chr14:66977960-66977961	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs199706917	chr14:66977966-66977967	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs553296265	chr14:66978061-66978062	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs147739575	chr14:66978097-66978098	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs149200789	chr14:66978102-66978103	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs551260907	chr14:66978155-66978156	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs573465833	chr14:66978163-66978164	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs571076871	chr14:66978174-66978175	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs77869165	chr14:66978238-66978239	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs553517001	chr14:66978286-66978287	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs547974600	chr14:66978295-66978296	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs151286699	chr14:66978434-66978435	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs75094736	chr14:66978488-66978489	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs111680229	chr14:66978491-66978492	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs575195198	chr14:66978501-66978502	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs544123534	chr14:66978509-66978510	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs557661271	chr14:66978532-66978533	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs74635397	chr14:66978549-66978550	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs577502979	chr14:66978566-66978567	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs571854674	chr14:66978596-66978597	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs190291726	chr14:66978646-66978647	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs145643922	chr14:66978783-66978784	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs79724126	chr14:66978859-66978860	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs564484257	chr14:66978940-66978941	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs555729540	chr14:66978968-66978969	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs542668482	chr14:66978994-66978995	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs375895765	chr14:66979080-66979081	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs544357667	chr14:66979096-66979097	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs200210613	chr14:66979097-66979098	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs531304350	chr14:66979130-66979131	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs551373477	chr14:66979140-66979141	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs115843692	chr14:66979226-66979227	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs375611087	chr14:66979240-66979241	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs546922584	chr14:66979260-66979261	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs567005159	chr14:66979338-66979339	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs141138866	chr14:66979430-66979431	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs549040150	chr14:66979441-66979442	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs369807068	chr14:66979449-66979450	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs144915618	chr14:66979453-66979454	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs2319387	chr14:66979493-66979494	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs557724540	chr14:66979615-66979616	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs182489706	chr14:66979652-66979653	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs35073418	chr14:66979661-66979662	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs34994110	chr14:66979664-66979665	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs376512146	chr14:66979756-66979757	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs368438788	chr14:66979786-66979787	Weak transcription Enhancers Active TSS	TF binding region	1 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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66976400-66980400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr14:66976600-66978200	Weak transcription	NHDF-Ad	bronchial
3	chr14:66976600-66980400	Enhancers	Dnd41	blood
4	chr14:66976600-66989800	Weak transcription	Aorta	Aorta
5	chr14:66976800-66978800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr14:66976800-66978800	Weak transcription	Adipose Nuclei	Adipose
7	chr14:66976800-66983600	Weak transcription	Psoas Muscle	Psoas
8	chr14:66977000-66979800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr14:66977000-66979800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:66977000-66981000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:66977000-66981000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:66977200-66978600	Weak transcription	Fetal Heart	heart
13	chr14:66977200-66978600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr14:66977400-66978200	Enhancers	HepG2	liver
15	chr14:66977400-66978800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr14:66977400-66979600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:66977600-66978800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr14:66977600-66978800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:66977600-66997200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:66977800-66978000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr14:66977800-66978000	Flanking Active TSS	GM12878-XiMat	blood
22	chr14:66977800-66978800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:66977800-66978800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr14:66977800-66979000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:66977800-66979000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr14:66977800-66979200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:66977800-66979400	Enhancers	Liver	Liver
28	chr14:66978000-66978200	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr14:66978000-66978200	Active TSS	GM12878-XiMat	blood
30	chr14:66978200-66978400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr14:66978200-66978600	Weak transcription	HepG2	liver
32	chr14:66978200-66979400	Flanking Active TSS	GM12878-XiMat	blood
33	chr14:66978400-66980400	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr14:66978600-66979200	Enhancers	HepG2	liver
35	chr14:66978600-66979400	Enhancers	Fetal Heart	heart
36	chr14:66978600-66980000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr14:66978600-66982600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr14:66978800-66979000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:66978800-66979000	Enhancers	Brain Cingulate Gyrus	brain
40	chr14:66978800-66979000	Enhancers	Hela-S3	cervix
41	chr14:66978800-66979200	Enhancers	Primary T cells from cord blood	blood
42	chr14:66978800-66979200	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr14:66978800-66979200	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr14:66978800-66979200	Enhancers	Adipose Nuclei	Adipose
45	chr14:66978800-66979400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr14:66979000-66979200	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr14:66979000-66979200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:66979000-66979200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:66979000-66979600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr14:66979000-66980000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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