Variant report

Variant	esv3389206
Chromosome Location	chr5:15941877-15944100
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	chr5:15940925..15941957-chr5:15995066..15996242,6	MCF-7	breast:
2	chr5:15941095..15942002-chr5:15995664..15996228,2	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555152421	chr5:15941891-15941892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186736271	chr5:15941922-15941923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567004647	chr5:15941935-15941936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192411239	chr5:15941941-15941942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375356552	chr5:15941971-15941972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558648099	chr5:15941973-15941974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532739536	chr5:15942044-15942045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541114367	chr5:15942061-15942062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544280971	chr5:15942077-15942078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559637404	chr5:15942158-15942159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183314142	chr5:15942159-15942160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186851603	chr5:15942175-15942176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560300162	chr5:15942201-15942202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530082300	chr5:15942205-15942206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189735014	chr5:15942206-15942207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149536466	chr5:15942209-15942210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369635420	chr5:15942211-15942212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113727377	chr5:15942216-15942217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531382030	chr5:15942218-15942219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146039749	chr5:15942221-15942222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561723353	chr5:15942233-15942234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548328289	chr5:15942241-15942242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182712990	chr5:15942304-15942305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111661789	chr5:15942356-15942357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192702830	chr5:15942391-15942392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552482801	chr5:15942413-15942414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75323805	chr5:15942433-15942434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370956355	chr5:15942463-15942464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375193444	chr5:15942482-15942483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570512918	chr5:15942528-15942529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537889481	chr5:15942537-15942538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375172676	chr5:15942612-15942613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72121276	chr5:15942613-15942614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556148446	chr5:15942635-15942636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574546106	chr5:15942641-15942642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185399315	chr5:15942686-15942687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563100600	chr5:15942745-15942746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553668965	chr5:15942758-15942759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143527411	chr5:15942763-15942764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572233457	chr5:15942772-15942773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188325534	chr5:15942813-15942814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552504143	chr5:15942869-15942870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576411489	chr5:15942901-15942902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373261526	chr5:15942924-15942925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561687059	chr5:15942944-15942945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528949786	chr5:15942983-15942984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139905782	chr5:15942990-15942991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570621809	chr5:15943014-15943015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368181875	chr5:15943056-15943057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60781532	chr5:15943066-15943067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
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
Cervical squamous cell carcinoma	21590768	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
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15928800-15951400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:15930200-15945600	Weak transcription	Fetal Brain Female	brain
3	chr5:15933800-15942600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:15933800-15943200	Weak transcription	Fetal Kidney	kidney
5	chr5:15934000-15943200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:15934000-15943600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:15934000-15950800	Weak transcription	Brain Substantia Nigra	brain
8	chr5:15934800-15946400	Strong transcription	Fetal Muscle Leg	muscle
9	chr5:15936200-15942800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:15936400-15942400	Strong transcription	Fetal Muscle Trunk	muscle
11	chr5:15936800-15954600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:15937200-15942600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr5:15938200-15943600	Weak transcription	Lung	lung
14	chr5:15938200-15950800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:15938400-15942400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr5:15938400-15946200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:15938400-15958000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:15938600-15943200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:15938600-15943200	Weak transcription	Brain Anterior Caudate	brain
20	chr5:15939200-15946000	Weak transcription	Fetal Intestine Large	intestine
21	chr5:15939200-15949800	Weak transcription	Dnd41	blood
22	chr5:15939200-15950800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr5:15939200-15951000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:15939200-15951000	Weak transcription	Brain Hippocampus Middle	brain
25	chr5:15939600-15947400	Weak transcription	Fetal Lung	lung
26	chr5:15939600-15953600	Weak transcription	Ovary	ovary
27	chr5:15939600-15956400	Weak transcription	HSMM	muscle
28	chr5:15939800-15942200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr5:15939800-15943200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:15939800-15943200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:15939800-15943400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:15940000-15942000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:15940000-15943200	Weak transcription	NHDF-Ad	bronchial
34	chr5:15940000-15943200	Weak transcription	Osteobl	bone
35	chr5:15940000-15959000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:15940200-15943200	Weak transcription	NHLF	lung
37	chr5:15940200-15952400	Weak transcription	HUVEC	blood vessel
38	chr5:15940800-15942200	Strong transcription	Left Ventricle	heart
39	chr5:15941000-15942200	Strong transcription	Fetal Heart	heart
40	chr5:15941000-15946000	Strong transcription	Fetal Stomach	stomach
41	chr5:15941000-15950800	Weak transcription	Colon Smooth Muscle	Colon
42	chr5:15941200-15942200	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr5:15941200-15942200	Strong transcription	Right Ventricle	heart
44	chr5:15941200-15943800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:15941400-15943600	Strong transcription	Aorta	Aorta
46	chr5:15941600-15942200	Strong transcription	HSMMtube	muscle
47	chr5:15941600-15943000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:15941600-15953600	Weak transcription	Adipose Nuclei	Adipose
49	chr5:15941800-15943400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:15942000-15943400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links