Variant report

Variant	esv1803229
Chromosome Location	chr1:242952408-242988232
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	chr1:242617838..242618342-chr1:242955947..242956813,2	MCF-7	breast:

Extended variants
information (count: 286 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199860487	chr1:242952411-242952412	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563322193	chr1:242952414-242952415	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146585006	chr1:242952446-242952447	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549004732	chr1:242952482-242952483	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545332362	chr1:242952490-242952491	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs33939589	chr1:242952491-242952492	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs66465165	chr1:242952492-242952493	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141289127	chr1:242952527-242952528	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs914950	chr1:242952528-242952529	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs571288592	chr1:242952595-242952596	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537110138	chr1:242952756-242952757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189454146	chr1:242952814-242952815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35808677	chr1:242952858-242952859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181805920	chr1:242952860-242952861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536890546	chr1:242952905-242952906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143658860	chr1:242952928-242952929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6669648	chr1:242952931-242952932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146853965	chr1:242952971-242952972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558489145	chr1:242952972-242952973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542992001	chr1:242952996-242952997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148968819	chr1:242953032-242953033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544276901	chr1:242953050-242953051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143823626	chr1:242953087-242953088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148166171	chr1:242953118-242953119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183692392	chr1:242953133-242953134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559278921	chr1:242953143-242953144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559287299	chr1:242953155-242953156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528122954	chr1:242953158-242953159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528370232	chr1:242953166-242953167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551718469	chr1:242953221-242953222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188005261	chr1:242953241-242953242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114128874	chr1:242953255-242953256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550392100	chr1:242953259-242953260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572753046	chr1:242953274-242953275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540197350	chr1:242953278-242953279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564859044	chr1:242953285-242953286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551644511	chr1:242953288-242953289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532275342	chr1:242953329-242953330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535965861	chr1:242953368-242953369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553502950	chr1:242953390-242953391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566967627	chr1:242953397-242953398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538929223	chr1:242953407-242953408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563389052	chr1:242953430-242953431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377366998	chr1:242953431-242953432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181395421	chr1:242953473-242953474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375863560	chr1:242953493-242953494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186158500	chr1:242953556-242953557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189824029	chr1:242953571-242953572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181887111	chr1:242953572-242953573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544321363	chr1:242953701-242953702	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	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
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242945800-242955000	Enhancers	Primary B cells from peripheral blood	blood
2	chr1:242951000-242952800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:242951800-242952600	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr1:242951800-242953000	Enhancers	GM12878-XiMat	blood
5	chr1:242952600-242953800	Enhancers	Primary B cells from cord blood	blood
6	chr1:242952800-242953000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:242953000-242953400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:242953400-242954000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:242953600-242954000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:242953600-242954400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:242953800-242955800	Weak transcription	Primary B cells from cord blood	blood
12	chr1:242954800-242955200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:242955200-242955400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
14	chr1:242955800-242956000	ZNF genes & repeats	Primary B cells from cord blood	blood
15	chr1:242963600-242964000	Enhancers	GM12878-XiMat	blood
16	chr1:242974000-242975000	Enhancers	HMEC	breast
17	chr1:242974600-242975200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:242976400-242976600	Enhancers	GM12878-XiMat	blood
19	chr1:242976400-242977000	Enhancers	Primary B cells from cord blood	blood
20	chr1:242976400-242977200	Enhancers	Primary B cells from peripheral blood	blood
21	chr1:242976600-242977200	Flanking Active TSS	GM12878-XiMat	blood
22	chr1:242977200-242977400	Enhancers	GM12878-XiMat	blood
23	chr1:242987200-242988800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:242987200-242991000	Enhancers	HMEC	breast
25	chr1:242987400-242988600	Enhancers	A549	lung
26	chr1:242987400-242988800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:242987600-242987800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:242987600-242987800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:242987600-242988000	Enhancers	HSMMtube	muscle
30	chr1:242987600-242988200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr1:242987600-242988600	Enhancers	Placenta Amnion	Placenta Amnion
32	chr1:242987600-242989000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:242987600-242991800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:242987600-242993200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:242987800-242988600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:242987800-242988600	Enhancers	Hela-S3	cervix
37	chr1:242988000-242990000	Weak transcription	HSMMtube	muscle
38	chr1:242988200-242992000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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