Variant report

Variant	esv991378
Chromosome Location	chr1:242954573-242984788
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: 162 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190623618	chr1:242954596-242954597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34238919	chr1:242954613-242954614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2809897	chr1:242954631-242954632	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs546671738	chr1:242954653-242954654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559857453	chr1:242954663-242954664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183291668	chr1:242954678-242954679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188166876	chr1:242954697-242954698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192880409	chr1:242954700-242954701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146945495	chr1:242954787-242954788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138041573	chr1:242954788-242954789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548637249	chr1:242954805-242954806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568423233	chr1:242954815-242954816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533987114	chr1:242954817-242954818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375803378	chr1:242954829-242954830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370181407	chr1:242954843-242954844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149508523	chr1:242954897-242954898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113173954	chr1:242954907-242954908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539959454	chr1:242954921-242954922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558748800	chr1:242954975-242954976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75248892	chr1:242954978-242954979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544472404	chr1:242955000-242955001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554614668	chr1:242955006-242955007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183551303	chr1:242955007-242955008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148684234	chr1:242955062-242955063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187275668	chr1:242955063-242955064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375397384	chr1:242955103-242955104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545510705	chr1:242955105-242955106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562729403	chr1:242955181-242955182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576899342	chr1:242955220-242955221	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs373103999	chr1:242955256-242955257	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs548863058	chr1:242955287-242955288	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs56275902	chr1:242955319-242955320	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs568703057	chr1:242955346-242955347	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs527987761	chr1:242955363-242955364	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs78424850	chr1:242955390-242955391	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs570873158	chr1:242955394-242955395	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs192560856	chr1:242955395-242955396	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs371024487	chr1:242955429-242955430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12752277	chr1:242955437-242955438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12751141	chr1:242955471-242955472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12751150	chr1:242955487-242955488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12733675	chr1:242955508-242955509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12751297	chr1:242955563-242955564	Weak transcription	n/a	n/a	Overlapped CNVs	disease
44	rs556722012	chr1:242955623-242955624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184541804	chr1:242955654-242955655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188154184	chr1:242955655-242955656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370645680	chr1:242955668-242955669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2809866	chr1:242955841-242955842	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs574598540	chr1:242955876-242955877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs192503928	chr1:242955920-242955921	ZNF genes & repeats	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:13 , 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	chr1:242953800-242955800	Weak transcription	Primary B cells from cord blood	blood
3	chr1:242954800-242955200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:242955200-242955400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
5	chr1:242955800-242956000	ZNF genes & repeats	Primary B cells from cord blood	blood
6	chr1:242963600-242964000	Enhancers	GM12878-XiMat	blood
7	chr1:242974000-242975000	Enhancers	HMEC	breast
8	chr1:242974600-242975200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:242976400-242976600	Enhancers	GM12878-XiMat	blood
10	chr1:242976400-242977000	Enhancers	Primary B cells from cord blood	blood
11	chr1:242976400-242977200	Enhancers	Primary B cells from peripheral blood	blood
12	chr1:242976600-242977200	Flanking Active TSS	GM12878-XiMat	blood
13	chr1:242977200-242977400	Enhancers	GM12878-XiMat	blood

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