Variant report

Variant	esv2760751
Chromosome Location	chr3:158030097-158033293
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:158025009..158027242-chr3:158028757..158031131,2	MCF-7	breast:
2	chr3:157809239..157809866-chr3:158030959..158031768,2	MCF-7	breast:
3	chr3:158023842..158026323-chr3:158027865..158030221,2	K562	blood:
4	chr3:157582863..157583751-chr3:158030850..158031410,2	K562	blood:
5	chr3:157582951..157583734-chr3:158030809..158031411,3	MCF-7	breast:
6	chr3:157809299..157809919-chr3:158031275..158031835,2	MCF-7	breast:

Extended variants
information (count: 122 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1193511	chr3:158030097-158030098	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149815450	chr3:158030101-158030102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193055883	chr3:158030142-158030143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564026258	chr3:158030171-158030172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575733559	chr3:158030202-158030203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1193510	chr3:158030216-158030217	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs1193509	chr3:158030243-158030244	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs554440794	chr3:158030244-158030245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184846749	chr3:158030280-158030281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116096977	chr3:158030325-158030326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1193508	chr3:158030350-158030351	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs10513526	chr3:158030382-158030383	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs569158375	chr3:158030404-158030405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539253685	chr3:158030490-158030491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189987948	chr3:158030506-158030507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566337748	chr3:158030522-158030523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372874076	chr3:158030555-158030556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534749288	chr3:158030569-158030570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553073992	chr3:158030626-158030627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574458058	chr3:158030629-158030630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9784298	chr3:158030633-158030634	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs199909315	chr3:158030648-158030649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557352192	chr3:158030691-158030692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181194478	chr3:158030775-158030776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs56286928	chr3:158030778-158030779	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs75877890	chr3:158030783-158030784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183968551	chr3:158030805-158030806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145823437	chr3:158030811-158030812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140575227	chr3:158030861-158030862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528858020	chr3:158030881-158030882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188240177	chr3:158030888-158030889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562630074	chr3:158030892-158030893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9784311	chr3:158030903-158030904	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs1730039	chr3:158030951-158030952	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs1730040	chr3:158030962-158030963	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs533755216	chr3:158030980-158030981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77856712	chr3:158030981-158030982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540803502	chr3:158031008-158031009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528909616	chr3:158031039-158031040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568243783	chr3:158031040-158031041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181941734	chr3:158031062-158031063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144339414	chr3:158031094-158031095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187195178	chr3:158031102-158031103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1724704	chr3:158031155-158031156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs540080522	chr3:158031184-158031185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190066171	chr3:158031196-158031197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73168713	chr3:158031211-158031212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs540854933	chr3:158031287-158031288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376085438	chr3:158031361-158031362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573720913	chr3:158031477-158031478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157986400-158040000	Weak transcription	Primary B cells from cord blood	blood
2	chr3:157993400-158054600	Weak transcription	Primary T cells from cord blood	blood
3	chr3:157993800-158040600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr3:158019200-158041600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr3:158029800-158031000	Enhancers	K562	blood
6	chr3:158030000-158030600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:158031600-158032200	Enhancers	GM12878-XiMat	blood
8	chr3:158032200-158032600	Flanking Active TSS	GM12878-XiMat	blood
9	chr3:158032600-158033200	Enhancers	GM12878-XiMat	blood

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