Variant report

Variant	esv3324636
Chromosome Location	chr1:150649323-150650178
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	chr1:150648019..150649950-chr1:150651188..150654049,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113561392	chr1:150649362-150649363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143722760	chr1:150649401-150649402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187206992	chr1:150649403-150649404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs587739318	chr1:150649440-150649441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189271927	chr1:150649510-150649511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12064701	chr1:150649514-150649515	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs587748839	chr1:150649607-150649608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs587622605	chr1:150649623-150649624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148931998	chr1:150649639-150649640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs587755960	chr1:150649688-150649689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180750918	chr1:150649693-150649694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs587683094	chr1:150649696-150649697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs587767285	chr1:150649788-150649789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs587631218	chr1:150649789-150649790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370109398	chr1:150649797-150649798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186497471	chr1:150649944-150649945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs587673038	chr1:150649962-150649963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs587725469	chr1:150649997-150649998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111520413	chr1:150650005-150650006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
20	rs151035260	chr1:150650019-150650020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs587711915	chr1:150650065-150650066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs587611910	chr1:150650069-150650070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs587661696	chr1:150650110-150650111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141478564	chr1:150650148-150650149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs587624423	chr1:150650152-150650153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115020213	chr1:150650153-150650154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116687192	chr1:150650166-150650167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Cancer	23975201	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150603200-150661200	Weak transcription	Brain Substantia Nigra	brain
2	chr1:150603400-150668200	Weak transcription	Brain Germinal Matrix	brain
3	chr1:150608600-150668600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:150618800-150660400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:150621000-150660800	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:150621200-150660400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:150621200-150664800	Weak transcription	Fetal Brain Female	brain
8	chr1:150621200-150665000	Weak transcription	Fetal Kidney	kidney
9	chr1:150621200-150669400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:150621400-150660400	Weak transcription	HSMM	muscle
11	chr1:150621800-150661200	Weak transcription	NHDF-Ad	bronchial
12	chr1:150621800-150668600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:150622000-150661400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:150622000-150668600	Weak transcription	HSMMtube	muscle
15	chr1:150622000-150669400	Weak transcription	Esophagus	oesophagus
16	chr1:150622200-150660600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:150623200-150668600	Weak transcription	Brain Angular Gyrus	brain
18	chr1:150623400-150663000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:150630000-150664800	Weak transcription	Thymus	Thymus
20	chr1:150630800-150656200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr1:150631800-150665400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:150632400-150669000	Weak transcription	Aorta	Aorta
23	chr1:150632600-150654200	Weak transcription	Ovary	ovary
24	chr1:150632600-150658400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:150632600-150665000	Weak transcription	Colonic Mucosa	Colon
26	chr1:150632600-150668200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:150633000-150668600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:150633200-150656400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:150633200-150656400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:150633200-150669200	Weak transcription	Left Ventricle	heart
31	chr1:150633400-150656400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr1:150633400-150660600	Weak transcription	Fetal Lung	lung
33	chr1:150633400-150665000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:150634200-150653600	Weak transcription	Osteobl	bone
35	chr1:150634200-150654400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:150634400-150653000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:150634400-150654000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:150634400-150656400	Weak transcription	Primary B cells from cord blood	blood
39	chr1:150634600-150651600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:150634600-150656200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:150634600-150656400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:150634600-150656400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr1:150634600-150658800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:150634600-150660400	Weak transcription	K562	blood
45	chr1:150634600-150660800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr1:150634600-150661200	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr1:150634600-150664800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr1:150634800-150658600	Weak transcription	Brain Hippocampus Middle	brain
49	chr1:150634800-150660000	Weak transcription	NHEK	skin
50	chr1:150635200-150653600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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