Variant report

Variant	nsv548146
Chromosome Location	chr1:169000109-169006682
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	chr1:169002947..169004749-chr1:169074616..169077346,2	MCF-7	breast:
2	chr1:168989938..168992606-chr1:169002403..169004343,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143153	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10919036	chr1:169000109-169000110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187250096	chr1:169000112-169000113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549771736	chr1:169000120-169000121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571237856	chr1:169000184-169000185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112121501	chr1:169000185-169000186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146355712	chr1:169000193-169000194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556875841	chr1:169000255-169000256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs80097353	chr1:169000281-169000282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4486430	chr1:169000292-169000293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs16861872	chr1:169000391-169000392	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs568571592	chr1:169000398-169000399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555254470	chr1:169000426-169000427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569982447	chr1:169000486-169000487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10494476	chr1:169000494-169000495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs558556874	chr1:169000552-169000553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373790985	chr1:169000594-169000595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114367705	chr1:169000612-169000613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541557748	chr1:169000627-169000628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192012360	chr1:169000644-169000645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185301684	chr1:169000684-169000685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542421478	chr1:169000741-169000742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190540231	chr1:169000744-169000745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12404439	chr1:169000797-169000798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377495405	chr1:169000825-169000826	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs193147465	chr1:169000854-169000855	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs78332061	chr1:169000859-169000860	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs112984988	chr1:169000906-169000907	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs564913639	chr1:169000932-169000933	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs77072867	chr1:169000939-169000940	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs149636845	chr1:169001025-169001026	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs144256444	chr1:169001031-169001032	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs184424110	chr1:169001085-169001086	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs187979511	chr1:169001106-169001107	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs533826444	chr1:169001115-169001116	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs548346077	chr1:169001132-169001133	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs569893703	chr1:169001138-169001139	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs537384997	chr1:169001158-169001159	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs142163836	chr1:169001186-169001187	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs71118957	chr1:169001194-169001195	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs75110497	chr1:169001199-169001200	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs73045883	chr1:169002948-169002949	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs540571640	chr1:169002983-169002984	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs79514534	chr1:169002991-169002992	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs186451027	chr1:169003012-169003013	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs550966379	chr1:169003022-169003023	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs189734938	chr1:169003111-169003112	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs558971988	chr1:169003126-169003127	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs533501678	chr1:169003232-169003233	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs551844269	chr1:169003272-169003273	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs73045884	chr1:169003294-169003295	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	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
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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
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
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
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168997400-169000800	Weak transcription	Brain Hippocampus Middle	brain
2	chr1:169000000-169000200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:169000600-169000800	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr1:169000600-169001000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:169000800-169001000	Enhancers	Brain Hippocampus Middle	brain
6	chr1:169000800-169001000	Enhancers	Colon Smooth Muscle	Colon
7	chr1:169000800-169001000	Enhancers	Rectal Smooth Muscle	rectum
8	chr1:169000800-169001200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:169000800-169001200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:169000800-169001200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr1:169000800-169001200	Enhancers	Brain Substantia Nigra	brain
12	chr1:169000800-169001200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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