Variant report

Variant	nsv1046542
Chromosome Location	chr14:25244806-25267208
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:
4	chr14:25245162..25247845-chr14:25250390..25253054,2	K562	blood:

Extended variants
information (count: 855 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs854345	chr14:25244806-25244807	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569849098	chr14:25244824-25244825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35357768	chr14:25244827-25244828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369024336	chr14:25244846-25244847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35288201	chr14:25244879-25244880	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs147963165	chr14:25244881-25244882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72681083	chr14:25244889-25244890	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533927945	chr14:25244944-25244945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553775759	chr14:25244971-25244972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371562033	chr14:25244989-25244990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs5807266	chr14:25245003-25245004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3080396	chr14:25245004-25245005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563626712	chr14:25245030-25245031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1381320	chr14:25245074-25245075	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs566232029	chr14:25245076-25245077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141889852	chr14:25245100-25245101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192885387	chr14:25245105-25245106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs151101169	chr14:25245159-25245160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184523934	chr14:25245187-25245188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572218890	chr14:25245234-25245235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189453337	chr14:25245241-25245242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530350565	chr14:25245251-25245252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs854346	chr14:25245253-25245254	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs533229787	chr14:25245286-25245287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs61976814	chr14:25245296-25245297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370850488	chr14:25245383-25245384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529328814	chr14:25245425-25245426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543725236	chr14:25245430-25245431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563295516	chr14:25245442-25245443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372460756	chr14:25245444-25245445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140989869	chr14:25245450-25245451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150220737	chr14:25245555-25245556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138679238	chr14:25245561-25245562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527812044	chr14:25245576-25245577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181943191	chr14:25245593-25245594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570533178	chr14:25245638-25245639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377750659	chr14:25245643-25245644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs117042742	chr14:25245671-25245672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556824062	chr14:25245695-25245696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570292411	chr14:25245698-25245699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536046881	chr14:25245713-25245714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569984405	chr14:25245764-25245765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371218515	chr14:25245813-25245814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149353964	chr14:25245815-25245816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370058177	chr14:25245817-25245818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184764120	chr14:25245887-25245888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557761143	chr14:25245925-25245926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537038639	chr14:25245939-25245940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577572109	chr14:25245974-25245975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543313293	chr14:25245981-25245982	Weak transcription Enhancers	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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25242800-25245600	Enhancers	Fetal Lung	lung
2	chr14:25244000-25245600	Enhancers	Psoas Muscle	Psoas
3	chr14:25244200-25245200	Weak transcription	Fetal Muscle Leg	muscle
4	chr14:25245200-25245400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr14:25245200-25245400	Enhancers	Fetal Muscle Leg	muscle
6	chr14:25245200-25247400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:25245400-25245600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr14:25245600-25246600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:25245600-25249200	Weak transcription	Fetal Lung	lung
10	chr14:25246000-25247000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr14:25246000-25247200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr14:25246400-25247200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr14:25246600-25247000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr14:25246600-25247400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr14:25249200-25250200	Enhancers	Fetal Lung	lung
16	chr14:25249200-25250800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr14:25249600-25250000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:25249800-25250200	Active TSS	Fetal Brain Male	brain
19	chr14:25250000-25255000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:25250200-25255400	Weak transcription	Fetal Lung	lung
21	chr14:25250400-25250600	Enhancers	Lung	lung
22	chr14:25253600-25254000	Enhancers	Brain Substantia Nigra	brain
23	chr14:25254000-25254400	Enhancers	Brain Hippocampus Middle	brain
24	chr14:25254200-25254400	Enhancers	Fetal Muscle Leg	muscle
25	chr14:25254400-25258200	Weak transcription	Fetal Muscle Leg	muscle
26	chr14:25255000-25255800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:25255400-25261800	Enhancers	Fetal Lung	lung
28	chr14:25256400-25256600	Enhancers	Duodenum Mucosa	Duodenum
29	chr14:25256400-25257400	Enhancers	Fetal Intestine Large	intestine
30	chr14:25256800-25257000	Enhancers	Fetal Intestine Small	intestine
31	chr14:25256800-25257000	Enhancers	Left Ventricle	heart
32	chr14:25256800-25257400	Enhancers	Small Intestine	intestine
33	chr14:25256800-25258800	Weak transcription	Fetal Brain Male	brain
34	chr14:25257000-25257600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:25257000-25258200	Weak transcription	Left Ventricle	heart
36	chr14:25257200-25258200	Weak transcription	Fetal Intestine Small	intestine
37	chr14:25257400-25258600	Weak transcription	Fetal Intestine Large	intestine
38	chr14:25258000-25259200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr14:25258200-25258800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr14:25258200-25259000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:25258200-25259000	Enhancers	Fetal Intestine Small	intestine
42	chr14:25258200-25259000	Enhancers	Rectal Smooth Muscle	rectum
43	chr14:25258200-25259200	Enhancers	Colon Smooth Muscle	Colon
44	chr14:25258200-25259200	Enhancers	Duodenum Mucosa	Duodenum
45	chr14:25258200-25259200	Enhancers	Fetal Muscle Leg	muscle
46	chr14:25258200-25259200	Enhancers	Fetal Stomach	stomach
47	chr14:25258200-25259200	Enhancers	Left Ventricle	heart
48	chr14:25258200-25259800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr14:25258400-25259000	Enhancers	Brain Germinal Matrix	brain
50	chr14:25258400-25259200	Enhancers	Adipose Nuclei	Adipose

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