Variant report

Variant	nsv564063
Chromosome Location	chr14:25253343-25262952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:25257418..25259625-chr14:25262130..25263668,2	MCF-7	breast:
2	chr14:25257418..25259625-chr14:25262130..25263668,2	MCF-7	breast:

Extended variants
information (count: 366 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs854356	chr14:25253343-25253344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541169061	chr14:25253366-25253367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146533380	chr14:25253387-25253388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533165038	chr14:25253440-25253441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543884038	chr14:25253459-25253460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563951693	chr14:25253482-25253483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188685971	chr14:25253496-25253497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549566357	chr14:25253514-25253515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566165975	chr14:25253546-25253547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112574768	chr14:25253573-25253574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35234094	chr14:25253578-25253579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551200106	chr14:25253641-25253642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571364476	chr14:25253652-25253653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181173002	chr14:25253672-25253673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185264216	chr14:25253688-25253689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187973652	chr14:25253725-25253726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143171417	chr14:25253744-25253745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528778787	chr14:25253746-25253747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371449696	chr14:25253768-25253769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552702095	chr14:25253791-25253792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371496765	chr14:25253835-25253836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532898548	chr14:25253853-25253854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114614256	chr14:25253904-25253905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182170836	chr14:25253906-25253907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372697537	chr14:25253919-25253920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187253941	chr14:25253925-25253926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376971765	chr14:25253986-25253987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546120935	chr14:25254006-25254007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191881370	chr14:25254053-25254054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142662007	chr14:25254061-25254062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs71119097	chr14:25254063-25254064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543824889	chr14:25254075-25254076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563688860	chr14:25254142-25254143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369502103	chr14:25254160-25254161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12892243	chr14:25254208-25254209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564429450	chr14:25254232-25254233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148267196	chr14:25254261-25254262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543349127	chr14:25254289-25254290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559861037	chr14:25254294-25254295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140411896	chr14:25254309-25254310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551975742	chr14:25254315-25254316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183795065	chr14:25254326-25254327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35047043	chr14:25254329-25254330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530534001	chr14:25254460-25254461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373705800	chr14:25254467-25254468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113317234	chr14:25254474-25254475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115849227	chr14:25254476-25254477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566925360	chr14:25254492-25254493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs33958362	chr14:25254504-25254505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150347818	chr14:25254525-25254526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25250000-25255000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:25250200-25255400	Weak transcription	Fetal Lung	lung
3	chr14:25253600-25254000	Enhancers	Brain Substantia Nigra	brain
4	chr14:25254000-25254400	Enhancers	Brain Hippocampus Middle	brain
5	chr14:25254200-25254400	Enhancers	Fetal Muscle Leg	muscle
6	chr14:25254400-25258200	Weak transcription	Fetal Muscle Leg	muscle
7	chr14:25255000-25255800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:25255400-25261800	Enhancers	Fetal Lung	lung
9	chr14:25256400-25256600	Enhancers	Duodenum Mucosa	Duodenum
10	chr14:25256400-25257400	Enhancers	Fetal Intestine Large	intestine
11	chr14:25256800-25257000	Enhancers	Fetal Intestine Small	intestine
12	chr14:25256800-25257000	Enhancers	Left Ventricle	heart
13	chr14:25256800-25257400	Enhancers	Small Intestine	intestine
14	chr14:25256800-25258800	Weak transcription	Fetal Brain Male	brain
15	chr14:25257000-25257600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:25257000-25258200	Weak transcription	Left Ventricle	heart
17	chr14:25257200-25258200	Weak transcription	Fetal Intestine Small	intestine
18	chr14:25257400-25258600	Weak transcription	Fetal Intestine Large	intestine
19	chr14:25258000-25259200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr14:25258200-25258800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr14:25258200-25259000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:25258200-25259000	Enhancers	Fetal Intestine Small	intestine
23	chr14:25258200-25259000	Enhancers	Rectal Smooth Muscle	rectum
24	chr14:25258200-25259200	Enhancers	Colon Smooth Muscle	Colon
25	chr14:25258200-25259200	Enhancers	Duodenum Mucosa	Duodenum
26	chr14:25258200-25259200	Enhancers	Fetal Muscle Leg	muscle
27	chr14:25258200-25259200	Enhancers	Fetal Stomach	stomach
28	chr14:25258200-25259200	Enhancers	Left Ventricle	heart
29	chr14:25258200-25259800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr14:25258400-25259000	Enhancers	Brain Germinal Matrix	brain
31	chr14:25258400-25259200	Enhancers	Adipose Nuclei	Adipose
32	chr14:25258400-25259200	Enhancers	Right Ventricle	heart
33	chr14:25258400-25259200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr14:25258400-25260000	Enhancers	Stomach Mucosa	stomach
35	chr14:25258600-25259400	Enhancers	Fetal Intestine Large	intestine
36	chr14:25258600-25259800	Bivalent Enhancer	HepG2	liver
37	chr14:25258800-25259000	Enhancers	Fetal Brain Male	brain
38	chr14:25258800-25259000	Enhancers	Stomach Smooth Muscle	stomach
39	chr14:25259000-25263800	Weak transcription	Fetal Brain Male	brain
40	chr14:25259200-25261600	Weak transcription	Fetal Muscle Leg	muscle
41	chr14:25260800-25261800	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr14:25261600-25261800	Enhancers	Fetal Muscle Leg	muscle
43	chr14:25261800-25264400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr14:25261800-25268200	Weak transcription	Fetal Lung	lung
45	chr14:25262400-25263400	Bivalent Enhancer	HepG2	liver

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