Variant report

Variant	nsv1045403
Chromosome Location	chr14:25249822-25271815
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:25257418..25259625-chr14:25262130..25263668,2	MCF-7	breast:
2	chr14:25245162..25247845-chr14:25250390..25253054,2	K562	blood:
3	chr14:25257418..25259625-chr14:25262130..25263668,2	MCF-7	breast:

Extended variants
information (count: 847 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:847 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11158905	chr14:25249822-25249823	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532264393	chr14:25249870-25249871	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs551873094	chr14:25249885-25249886	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs181313359	chr14:25249918-25249919	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs536435338	chr14:25249975-25249976	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs531456531	chr14:25249985-25249986	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs529019407	chr14:25249998-25249999	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs554612534	chr14:25250016-25250017	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs568908426	chr14:25250017-25250018	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs576415803	chr14:25250024-25250025	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs568402938	chr14:25250037-25250038	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs533972809	chr14:25250045-25250046	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs374227093	chr14:25250079-25250080	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs547640675	chr14:25250088-25250089	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs566835406	chr14:25250100-25250101	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs854353	chr14:25250101-25250102	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs186366105	chr14:25250117-25250118	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs145629342	chr14:25250193-25250194	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs188245098	chr14:25250194-25250195	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs180948392	chr14:25250240-25250241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185026655	chr14:25250271-25250272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540408833	chr14:25250282-25250283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553982024	chr14:25250308-25250309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576831631	chr14:25250421-25250422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370418839	chr14:25250542-25250543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545883998	chr14:25250548-25250549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138256900	chr14:25250573-25250574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531323601	chr14:25250641-25250642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73589759	chr14:25250679-25250680	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs141108864	chr14:25250686-25250687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576887518	chr14:25250717-25250718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527619203	chr14:25250801-25250802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114907441	chr14:25250803-25250804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570646922	chr14:25250811-25250812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532454829	chr14:25250871-25250872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150167755	chr14:25250901-25250902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569293719	chr14:25250966-25250967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537846466	chr14:25250982-25250983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183235027	chr14:25250997-25250998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111442130	chr14:25251044-25251045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374903691	chr14:25251085-25251086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138565250	chr14:25251099-25251100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186778593	chr14:25251139-25251140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577376665	chr14:25251156-25251157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34876233	chr14:25251190-25251191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17200498	chr14:25251194-25251195	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs576232948	chr14:25251230-25251231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563690261	chr14:25251247-25251248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541829835	chr14:25251250-25251251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561681027	chr14:25251282-25251283	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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25249200-25250200	Enhancers	Fetal Lung	lung
2	chr14:25249200-25250800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:25249600-25250000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:25249800-25250200	Active TSS	Fetal Brain Male	brain
5	chr14:25250000-25255000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:25250200-25255400	Weak transcription	Fetal Lung	lung
7	chr14:25250400-25250600	Enhancers	Lung	lung
8	chr14:25253600-25254000	Enhancers	Brain Substantia Nigra	brain
9	chr14:25254000-25254400	Enhancers	Brain Hippocampus Middle	brain
10	chr14:25254200-25254400	Enhancers	Fetal Muscle Leg	muscle
11	chr14:25254400-25258200	Weak transcription	Fetal Muscle Leg	muscle
12	chr14:25255000-25255800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:25255400-25261800	Enhancers	Fetal Lung	lung
14	chr14:25256400-25256600	Enhancers	Duodenum Mucosa	Duodenum
15	chr14:25256400-25257400	Enhancers	Fetal Intestine Large	intestine
16	chr14:25256800-25257000	Enhancers	Fetal Intestine Small	intestine
17	chr14:25256800-25257000	Enhancers	Left Ventricle	heart
18	chr14:25256800-25257400	Enhancers	Small Intestine	intestine
19	chr14:25256800-25258800	Weak transcription	Fetal Brain Male	brain
20	chr14:25257000-25257600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:25257000-25258200	Weak transcription	Left Ventricle	heart
22	chr14:25257200-25258200	Weak transcription	Fetal Intestine Small	intestine
23	chr14:25257400-25258600	Weak transcription	Fetal Intestine Large	intestine
24	chr14:25258000-25259200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr14:25258200-25258800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr14:25258200-25259000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:25258200-25259000	Enhancers	Fetal Intestine Small	intestine
28	chr14:25258200-25259000	Enhancers	Rectal Smooth Muscle	rectum
29	chr14:25258200-25259200	Enhancers	Colon Smooth Muscle	Colon
30	chr14:25258200-25259200	Enhancers	Duodenum Mucosa	Duodenum
31	chr14:25258200-25259200	Enhancers	Fetal Muscle Leg	muscle
32	chr14:25258200-25259200	Enhancers	Fetal Stomach	stomach
33	chr14:25258200-25259200	Enhancers	Left Ventricle	heart
34	chr14:25258200-25259800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr14:25258400-25259000	Enhancers	Brain Germinal Matrix	brain
36	chr14:25258400-25259200	Enhancers	Adipose Nuclei	Adipose
37	chr14:25258400-25259200	Enhancers	Right Ventricle	heart
38	chr14:25258400-25259200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr14:25258400-25260000	Enhancers	Stomach Mucosa	stomach
40	chr14:25258600-25259400	Enhancers	Fetal Intestine Large	intestine
41	chr14:25258600-25259800	Bivalent Enhancer	HepG2	liver
42	chr14:25258800-25259000	Enhancers	Fetal Brain Male	brain
43	chr14:25258800-25259000	Enhancers	Stomach Smooth Muscle	stomach
44	chr14:25259000-25263800	Weak transcription	Fetal Brain Male	brain
45	chr14:25259200-25261600	Weak transcription	Fetal Muscle Leg	muscle
46	chr14:25260800-25261800	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr14:25261600-25261800	Enhancers	Fetal Muscle Leg	muscle
48	chr14:25261800-25264400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr14:25261800-25268200	Weak transcription	Fetal Lung	lung
50	chr14:25262400-25263400	Bivalent Enhancer	HepG2	liver

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