Variant report

Variant	nsv564969
Chromosome Location	chr14:70000399-70022351
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70013357..70015397-chr14:70020516..70022458,2	K562	blood:
2	chr14:70009624..70012138-chr14:70013181..70015316,2	K562	blood:
3	chr14:70001746..70002559-chr14:70051373..70051892,2	MCF-7	breast:
4	chr14:70017252..70019408-chr14:70020667..70022465,2	MCF-7	breast:
5	chr14:70001892..70002546-chr14:70046761..70047295,2	MCF-7	breast:
6	chr14:70002103..70002603-chr14:70041525..70042102,2	K562	blood:
7	chr14:70000714..70002427-chr14:70038896..70041033,2	MCF-7	breast:
8	chr14:69989183..69991893-chr14:70006349..70008257,2	MCF-7	breast:
9	chr14:70017252..70019408-chr14:70020667..70022465,2	MCF-7	breast:
10	chr14:70001699..70002644-chr14:70040741..70042019,6	MCF-7	breast:
11	chr14:70019966..70021611-chr14:70026583..70029344,2	K562	blood:
12	chr14:70009624..70012138-chr14:70013181..70015316,2	K562	blood:
13	chr14:70001853..70002635-chr14:70034399..70035068,2	MCF-7	breast:
14	chr14:70014454..70015116-chr14:70193405..70194292,6	K562	blood:
15	chr14:70001801..70002678-chr14:70039788..70040731,3	MCF-7	breast:
16	chr14:70001682..70002652-chr14:70041139..70042080,9	MCF-7	breast:
17	chr14:70013357..70015397-chr14:70020516..70022458,2	K562	blood:
18	chr14:69970253..69971296-chr14:70001641..70002581,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf162-4	chr14:70007326-70007396	NONHSAT037529
2	lnc-C14orf162-4	chr14:70014555-70014755	NONHSAT037529

No data

Variant related genes	Relation type
ENSG00000244237	chromatin interactions
ENSG00000267909	chromatin interactions
ENSG00000100650	chromatin interactions

Extended variants
information (count: 794 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs927390	chr14:70000399-70000400	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74875276	chr14:70000402-70000403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78201002	chr14:70000403-70000404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77958425	chr14:70000404-70000405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550458994	chr14:70000442-70000443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187621927	chr14:70000448-70000449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529932050	chr14:70000456-70000457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554488265	chr14:70000496-70000497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1885401	chr14:70000506-70000507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs372638614	chr14:70000509-70000510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191484665	chr14:70000573-70000574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77137877	chr14:70000575-70000576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145088949	chr14:70000809-70000810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs544252214	chr14:70000893-70000894	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs563160985	chr14:70000939-70000940	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs182693775	chr14:70001010-70001011	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs575229346	chr14:70001016-70001017	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs542383946	chr14:70001045-70001046	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs560526908	chr14:70001073-70001074	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs527744079	chr14:70001100-70001101	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs548357747	chr14:70001108-70001109	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs374463723	chr14:70001201-70001202	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs147167433	chr14:70001231-70001232	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs199846264	chr14:70001249-70001250	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs200974443	chr14:70001250-70001251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs35161614	chr14:70001251-70001252	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs187322780	chr14:70001270-70001271	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs201143177	chr14:70001271-70001272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs117518957	chr14:70001274-70001275	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs534150621	chr14:70001323-70001324	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs369976500	chr14:70001339-70001340	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs549778078	chr14:70001342-70001343	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs568782395	chr14:70001403-70001404	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs368897126	chr14:70001462-70001463	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs536159318	chr14:70001488-70001489	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs192226290	chr14:70001529-70001530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs185480185	chr14:70001540-70001541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs534037495	chr14:70001549-70001550	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs35370266	chr14:70001554-70001555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs558661125	chr14:70001577-70001578	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs577044814	chr14:70001582-70001583	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs74614966	chr14:70001614-70001615	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs376880089	chr14:70001620-70001621	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs556218956	chr14:70001635-70001636	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs149730132	chr14:70001674-70001675	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs369916460	chr14:70001692-70001693	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs542171849	chr14:70001753-70001754	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs560881775	chr14:70001756-70001757	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs532100661	chr14:70001778-70001779	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs190530305	chr14:70001796-70001797	Weak transcription	Chromatin interactive region	1 gene(s)	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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	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
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
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69996400-70000400	Enhancers	Stomach Mucosa	stomach
2	chr14:69998600-70000400	Enhancers	Esophagus	oesophagus
3	chr14:70000200-70002000	Weak transcription	K562	blood
4	chr14:70000200-70002200	Weak transcription	Hela-S3	cervix
5	chr14:70000400-70002000	Weak transcription	Stomach Mucosa	stomach
6	chr14:70000400-70003200	Weak transcription	Esophagus	oesophagus
7	chr14:70001800-70002200	Enhancers	Brain Cingulate Gyrus	brain
8	chr14:70001800-70002400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr14:70001800-70002600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:70002000-70002200	Enhancers	K562	blood
11	chr14:70002000-70002400	Enhancers	Stomach Mucosa	stomach
12	chr14:70002200-70002400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr14:70002200-70002400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:70002200-70002400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
15	chr14:70002200-70002400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:70002200-70002400	Enhancers	Brain Anterior Caudate	brain
17	chr14:70002200-70002400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr14:70002200-70002400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
19	chr14:70002200-70002400	Bivalent Enhancer	HUVEC	blood vessel
20	chr14:70002200-70002400	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr14:70002200-70002400	Bivalent Enhancer	Osteobl	bone
22	chr14:70002200-70002600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:70002200-70002600	Enhancers	Hela-S3	cervix
24	chr14:70002400-70003600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr14:70002400-70004200	Weak transcription	Stomach Mucosa	stomach
26	chr14:70002400-70007000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:70002400-70014600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr14:70002600-70003800	Weak transcription	Hela-S3	cervix
29	chr14:70002600-70006200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:70003600-70003800	Enhancers	Placenta	Placenta
31	chr14:70003600-70004600	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr14:70003600-70005400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr14:70003800-70005600	Enhancers	Hela-S3	cervix
34	chr14:70004200-70004400	Enhancers	Stomach Mucosa	stomach
35	chr14:70004400-70004600	Enhancers	Esophagus	oesophagus
36	chr14:70004400-70004800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr14:70004400-70004800	Weak transcription	Stomach Mucosa	stomach
38	chr14:70004600-70005200	Weak transcription	Placenta	Placenta
39	chr14:70004600-70006200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr14:70004800-70005200	Enhancers	Stomach Mucosa	stomach
41	chr14:70004800-70010000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr14:70005600-70007000	Weak transcription	Hela-S3	cervix
43	chr14:70006200-70006800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr14:70006200-70006800	ZNF genes & repeats	Placenta	Placenta
45	chr14:70006200-70008200	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr14:70006800-70007000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:70006800-70007000	Weak transcription	Placenta	Placenta
48	chr14:70007000-70007200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr14:70007000-70007200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:70007000-70007200	Enhancers	NHEK	skin

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