Variant report

Variant	esv18680
Chromosome Location	chr1:242384554-242386417
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	chr1:242386329..242394751-chr1:242400505..242406264,14	MCF-7	breast:

Extended variants
information (count: 83 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527814351	chr1:242384555-242384556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547845402	chr1:242384587-242384588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140677052	chr1:242384603-242384604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1609952	chr1:242384605-242384606	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs185476287	chr1:242384649-242384650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569966873	chr1:242384686-242384687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1609951	chr1:242384733-242384734	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs1609950	chr1:242384746-242384747	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs565919781	chr1:242384780-242384781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144742061	chr1:242384807-242384808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373559019	chr1:242384811-242384812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145775237	chr1:242384941-242384942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10926657	chr1:242384945-242384946	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs10926658	chr1:242384953-242384954	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs556503866	chr1:242384954-242384955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113799430	chr1:242384963-242384964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148950557	chr1:242385009-242385010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10737874	chr1:242385038-242385039	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs143785256	chr1:242385104-242385105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs386641249	chr1:242385133-242385134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113478681	chr1:242385134-242385135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10737876	chr1:242385135-242385136	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs367926601	chr1:242385178-242385179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114990130	chr1:242385190-242385191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs151088347	chr1:242385197-242385198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141427195	chr1:242385213-242385214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547408635	chr1:242385228-242385229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537042436	chr1:242385247-242385248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74150865	chr1:242385253-242385254	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs555769778	chr1:242385320-242385321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190827756	chr1:242385355-242385356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367855025	chr1:242385362-242385363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10926659	chr1:242385365-242385366	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs10926660	chr1:242385445-242385446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs553211793	chr1:242385450-242385451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547186583	chr1:242385481-242385482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570482799	chr1:242385485-242385486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539086302	chr1:242385486-242385487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564574699	chr1:242385492-242385493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556163762	chr1:242385494-242385495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71788108	chr1:242385518-242385519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs59666356	chr1:242385519-242385520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576083037	chr1:242385524-242385525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181947416	chr1:242385550-242385551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369959368	chr1:242385573-242385574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs207461345	chr1:242385575-242385576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555689375	chr1:242385576-242385577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530010096	chr1:242385579-242385580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572154398	chr1:242385598-242385599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10926661	chr1:242385599-242385600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Cancer	20164919	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

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242371000-242386600	Weak transcription	HMEC	breast
2	chr1:242380200-242394400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:242380600-242388000	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:242380800-242386800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:242382600-242387800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:242382600-242387800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:242382600-242388400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:242383400-242384600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:242383400-242420600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:242383600-242387800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:242383600-242388000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:242383600-242388200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:242383600-242388200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:242383600-242400800	Weak transcription	Aorta	Aorta
15	chr1:242383800-242385800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:242383800-242386200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:242383800-242388200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:242384200-242385400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:242384400-242385000	Enhancers	A549	lung
20	chr1:242384600-242385000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:242384800-242385000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:242385000-242388600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:242385400-242387800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:242385800-242386800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:242386200-242386600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
26	chr1:242386400-242390000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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