Variant report

Variant	nsv517483
Chromosome Location	chr1:169576568-169581258
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169564132..169566509-chr1:169578988..169581892,2	K562	blood:
2	chr1:169575727..169578687-chr1:169579163..169582225,3	K562	blood:
3	chr1:169580882..169585091-chr1:169587132..169592638,6	K562	blood:
4	chr1:169575727..169578687-chr1:169579163..169582225,3	K562	blood:

Variant related genes	Relation type
ENSG00000174175	chromatin interactions

Extended variants
information (count: 230 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:230 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3917751	chr1:169576568-169576569	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552819396	chr1:169576629-169576630	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs574369246	chr1:169576641-169576642	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs3917872	chr1:169576667-169576668	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs556542551	chr1:169576702-169576703	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs3917750	chr1:169576753-169576754	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs377652330	chr1:169576775-169576776	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs546104569	chr1:169576809-169576810	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs564690116	chr1:169576842-169576843	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs191026463	chr1:169576870-169576871	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs112942318	chr1:169576876-169576877	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs182179096	chr1:169576915-169576916	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs576092817	chr1:169576980-169576981	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs3917749	chr1:169576989-169576990	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs111962234	chr1:169576997-169576998	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs113738315	chr1:169577059-169577060	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs529414351	chr1:169577136-169577137	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs145215645	chr1:169577159-169577160	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs78330501	chr1:169577176-169577177	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs370302619	chr1:169577187-169577188	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs111275916	chr1:169577256-169577257	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs530787993	chr1:169577267-169577268	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs571090859	chr1:169577280-169577281	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs552533152	chr1:169577300-169577301	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs3917748	chr1:169577307-169577308	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs539518640	chr1:169577310-169577311	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs149110501	chr1:169577313-169577314	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs2142760	chr1:169577333-169577334	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs374577221	chr1:169577359-169577360	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs376925892	chr1:169577365-169577366	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs112854499	chr1:169577371-169577372	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs201548046	chr1:169577385-169577386	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs200791706	chr1:169577386-169577387	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs536574307	chr1:169577387-169577388	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs3917747	chr1:169577471-169577472	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs556505328	chr1:169577498-169577499	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs113520601	chr1:169577501-169577502	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs199653418	chr1:169577508-169577509	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs3917746	chr1:169577518-169577519	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs539724506	chr1:169577552-169577553	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs558216325	chr1:169577575-169577576	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs112760821	chr1:169577582-169577583	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs573377356	chr1:169577606-169577607	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs540429208	chr1:169577626-169577627	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs187688449	chr1:169577633-169577634	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs111439327	chr1:169577634-169577635	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs369299023	chr1:169577647-169577648	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs574152211	chr1:169577698-169577699	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs3917745	chr1:169577708-169577709	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs569539967	chr1:169577712-169577713	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
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
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169565400-169581400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:169570400-169576600	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr1:169570400-169585400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:169574800-169576600	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr1:169574800-169578800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:169574800-169583000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr1:169575200-169580600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:169575400-169577200	Weak transcription	Primary B cells from cord blood	blood
9	chr1:169576000-169578800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:169576000-169580200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:169576200-169578000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr1:169576400-169578200	Weak transcription	Primary T cells from cord blood	blood
13	chr1:169576400-169578400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:169576400-169579200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:169576400-169580800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:169576600-169579200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr1:169576600-169585200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr1:169577200-169578000	Enhancers	Primary B cells from cord blood	blood
19	chr1:169577600-169577800	Enhancers	Primary B cells from peripheral blood	blood
20	chr1:169578000-169580200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr1:169578200-169579600	Enhancers	Primary T cells from cord blood	blood
22	chr1:169578400-169578600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr1:169578800-169579200	Enhancers	Lung	lung
24	chr1:169578800-169579400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:169578800-169584200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:169579000-169579800	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr1:169579000-169580400	Enhancers	HUVEC	blood vessel
28	chr1:169579200-169579400	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr1:169579200-169579800	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr1:169579400-169581400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:169579600-169579800	Enhancers	Primary B cells from cord blood	blood
32	chr1:169579600-169582000	Weak transcription	Primary T cells from cord blood	blood
33	chr1:169579800-169587600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:169580200-169581000	Enhancers	Adipose Nuclei	Adipose
35	chr1:169580200-169581000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr1:169580200-169584200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:169580600-169582000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:169580800-169581000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr1:169580800-169581000	Enhancers	Placenta	Placenta
40	chr1:169581000-169581400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr1:169581000-169583600	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr1:169581000-169585400	Weak transcription	Placenta	Placenta

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