Variant report

Variant	esv3396917
Chromosome Location	chr1:194671929-194675227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:194674960..194679319-chr1:194679735..194682692,3	K562	blood:
2	chr1:194664202..194668787-chr1:194669381..194672481,4	K562	blood:
3	chr1:194665790..194668787-chr1:194669663..194672481,2	K562	blood:

Extended variants
information (count: 135 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77822079	chr1:194671959-194671960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546679775	chr1:194671973-194671974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116241665	chr1:194671980-194671981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184506559	chr1:194671985-194671986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116264707	chr1:194672019-194672020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189137436	chr1:194672037-194672038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370030458	chr1:194672042-194672043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569208919	chr1:194672059-194672060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181945283	chr1:194672082-194672083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539758247	chr1:194672090-194672091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557738214	chr1:194672189-194672190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184210620	chr1:194672217-194672218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533898454	chr1:194672245-194672246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34090526	chr1:194672257-194672258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs573789816	chr1:194672259-194672260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544434601	chr1:194672261-194672262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562729526	chr1:194672267-194672268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577784388	chr1:194672281-194672282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545318519	chr1:194672289-194672290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112556419	chr1:194672320-194672321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560579119	chr1:194672331-194672332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528100360	chr1:194672375-194672376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546268846	chr1:194672399-194672400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12027887	chr1:194672445-194672446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs528981010	chr1:194672454-194672455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189083501	chr1:194672465-194672466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12736347	chr1:194672531-194672532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs138319389	chr1:194672535-194672536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77216985	chr1:194672550-194672551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571333958	chr1:194672552-194672553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566641379	chr1:194672591-194672592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141275901	chr1:194672594-194672595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555457738	chr1:194672618-194672619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181225275	chr1:194672638-194672639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186533817	chr1:194672642-194672643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556213668	chr1:194672653-194672654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111770746	chr1:194672680-194672681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545233162	chr1:194672724-194672725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554490915	chr1:194672725-194672726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12737785	chr1:194672732-194672733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs540257769	chr1:194672815-194672816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561682847	chr1:194672875-194672876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12723726	chr1:194672914-194672915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs529218632	chr1:194672915-194672916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550753991	chr1:194672964-194672965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544327175	chr1:194673020-194673021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180722646	chr1:194673034-194673035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533200587	chr1:194673055-194673056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551280213	chr1:194673063-194673064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566783867	chr1:194673083-194673084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	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
Prostate cancer	18632612	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
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194670000-194674400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:194674000-194675000	Enhancers	Fetal Lung	lung
3	chr1:194674200-194674600	Enhancers	Brain Hippocampus Middle	brain
4	chr1:194674200-194674800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:194674200-194674800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:194674200-194675000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:194674400-194675000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:194674400-194675000	Active TSS	Ovary	ovary
9	chr1:194674600-194675000	Active TSS	Brain Cingulate Gyrus	brain
10	chr1:194674600-194675000	Active TSS	Brain Hippocampus Middle	brain
11	chr1:194675000-194677400	Weak transcription	Fetal Lung	lung
12	chr1:194675000-194678600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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