Variant report

Variant	esv3470347
Chromosome Location	chr5:14370407-14372176
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	chr5:14370789..14372438-chr5:14374024..14376617,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527799020	chr5:14370459-14370460	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187297105	chr5:14370484-14370485	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574375714	chr5:14370497-14370498	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570956869	chr5:14370562-14370563	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538096965	chr5:14370574-14370575	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570227706	chr5:14370657-14370658	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs56114434	chr5:14370660-14370661	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs80239025	chr5:14370679-14370680	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536118232	chr5:14370702-14370703	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553502580	chr5:14370708-14370709	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4702031	chr5:14370745-14370746	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571665135	chr5:14370754-14370755	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539146563	chr5:14370764-14370765	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557475867	chr5:14370775-14370776	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575720297	chr5:14370795-14370796	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543282513	chr5:14370823-14370824	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561895034	chr5:14370824-14370825	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs256416	chr5:14370831-14370832	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs546589803	chr5:14370836-14370837	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35165562	chr5:14370861-14370862	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116498284	chr5:14370909-14370910	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560491363	chr5:14370910-14370911	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs66554336	chr5:14370913-14370914	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs552597662	chr5:14370937-14370938	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs16903423	chr5:14370985-14370986	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs10076925	chr5:14371001-14371002	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs76641677	chr5:14371018-14371019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550126947	chr5:14371078-14371079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146920331	chr5:14371105-14371106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147593114	chr5:14371135-14371136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191872649	chr5:14371145-14371146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs256417	chr5:14371180-14371181	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs142035945	chr5:14371191-14371192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183337437	chr5:14371213-14371214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369815499	chr5:14371214-14371215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186496240	chr5:14371312-14371313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539515009	chr5:14371314-14371315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191296015	chr5:14371319-14371320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555284802	chr5:14371339-14371340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77109414	chr5:14371357-14371358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577260213	chr5:14371363-14371364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377137493	chr5:14371375-14371376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143357817	chr5:14371417-14371418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373981726	chr5:14371433-14371434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148347389	chr5:14371436-14371437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35913078	chr5:14371465-14371466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116338657	chr5:14371473-14371474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553344931	chr5:14371504-14371505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1664507	chr5:14371539-14371540	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs530845644	chr5:14371555-14371556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Intracranial aneurysm	16715129	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14350400-14373800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:14351600-14399400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr5:14353600-14385200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:14353600-14398800	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr5:14354400-14374800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:14354600-14402400	Strong transcription	Liver	Liver
7	chr5:14355000-14392400	Strong transcription	HSMMtube	muscle
8	chr5:14355000-14398800	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr5:14355600-14375000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:14356400-14373800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:14356800-14376000	Strong transcription	HepG2	liver
12	chr5:14357000-14371200	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:14357000-14374000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:14357000-14376400	Strong transcription	NHLF	lung
15	chr5:14357000-14376600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr5:14357600-14422000	Weak transcription	Stomach Mucosa	stomach
17	chr5:14357800-14385000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:14357800-14389800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:14358000-14373800	Strong transcription	Placenta Amnion	Placenta Amnion
20	chr5:14358000-14377000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr5:14358000-14385800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:14358000-14389800	Strong transcription	Adipose Nuclei	Adipose
23	chr5:14358200-14375800	Strong transcription	Stomach Smooth Muscle	stomach
24	chr5:14358200-14391600	Strong transcription	Primary B cells from cord blood	blood
25	chr5:14358400-14371200	Strong transcription	Fetal Brain Female	brain
26	chr5:14358400-14374200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:14358400-14374600	Strong transcription	Fetal Stomach	stomach
28	chr5:14358400-14385600	Strong transcription	Fetal Intestine Large	intestine
29	chr5:14358400-14392000	Strong transcription	Fetal Muscle Leg	muscle
30	chr5:14358600-14373600	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:14358600-14374000	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr5:14358600-14392600	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr5:14358800-14373200	Strong transcription	NHDF-Ad	bronchial
34	chr5:14358800-14375600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:14360000-14373800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:14360000-14398400	Strong transcription	Fetal Muscle Trunk	muscle
37	chr5:14363400-14373800	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr5:14363600-14374800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:14363600-14386000	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr5:14363600-14396000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:14363800-14370600	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr5:14363800-14370800	Strong transcription	Fetal Lung	lung
43	chr5:14363800-14371000	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr5:14363800-14371400	Strong transcription	Brain Hippocampus Middle	brain
45	chr5:14363800-14373800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr5:14363800-14373800	Strong transcription	Ovary	ovary
47	chr5:14363800-14374600	Strong transcription	Rectal Smooth Muscle	rectum
48	chr5:14363800-14380000	Strong transcription	Placenta	Placenta
49	chr5:14363800-14380400	Strong transcription	Hela-S3	cervix
50	chr5:14363800-14383200	Strong transcription	Colonic Mucosa	Colon

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