Variant report

Variant	esv3418686
Chromosome Location	chr1:160113183-160113730
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	chr1:160112963..160115059-chr1:160116109..160118179,2	K562	blood:
2	chr1:160099410..160101934-chr1:160112290..160114172,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373523004	chr1:160113185-160113186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149190900	chr1:160113194-160113195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558928830	chr1:160113195-160113196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9905	chr1:160113240-160113241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577126897	chr1:160113268-160113269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544552501	chr1:160113297-160113298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2854245	chr1:160113339-160113340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112598437	chr1:160113362-160113363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs3747625	chr1:160113371-160113372	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs563019849	chr1:160113372-160113373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574731755	chr1:160113391-160113392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374081896	chr1:160113394-160113395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145110815	chr1:160113397-160113398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542035898	chr1:160113410-160113411	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs3833437	chr1:160113413-160113414	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs544456451	chr1:160113438-160113439	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs560043428	chr1:160113452-160113453	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs180949615	chr1:160113478-160113479	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs77292668	chr1:160113533-160113534	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs77777794	chr1:160113534-160113535	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs541974277	chr1:160113541-160113542	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs531188273	chr1:160113545-160113546	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs185182426	chr1:160113546-160113547	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs138561760	chr1:160113557-160113558	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs367931457	chr1:160113597-160113598	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs371105488	chr1:160113599-160113600	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs530291666	chr1:160113612-160113613	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs548764332	chr1:160113613-160113614	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs566922235	chr1:160113677-160113678	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19602461	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160088000-160146200	Weak transcription	Spleen	Spleen
2	chr1:160100000-160114800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:160103400-160118000	Weak transcription	Right Atrium	heart
4	chr1:160106600-160114200	Weak transcription	Adipose Nuclei	Adipose
5	chr1:160106800-160121600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:160107400-160114600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:160107600-160121400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:160109800-160114800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:160110200-160113400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:160110200-160114800	Weak transcription	Fetal Stomach	stomach
11	chr1:160110400-160114400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:160111000-160113400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:160111200-160114400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:160111600-160113200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:160111800-160113400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:160111800-160114800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:160111800-160117600	Weak transcription	Left Ventricle	heart
18	chr1:160112000-160113600	Weak transcription	Right Ventricle	heart
19	chr1:160112000-160115200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:160112000-160115200	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:160112200-160114600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:160112200-160114800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:160112200-160115800	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:160112200-160118600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:160112200-160119000	Weak transcription	HSMMtube	muscle
26	chr1:160112200-160119800	Weak transcription	Aorta	Aorta
27	chr1:160112600-160114800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:160112800-160113600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:160112800-160114400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr1:160113000-160113200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:160113000-160114800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr1:160113000-160115000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr1:160113000-160115000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:160113000-160118000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:160113400-160113600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:160113400-160113800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:160113400-160113800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr1:160113600-160113800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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