Variant report

Variant	nsv825098
Chromosome Location	chr1:160793398-160793980
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	chr1:160779738..160781417-chr1:160790589..160793548,2	K562	blood:
2	chr1:160791268..160793471-chr1:160795431..160798157,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLAMF7-9	chr1:160793298-160793586	NONHSAT007077
2	lnc-SLAMF7-9	chr1:160793972-160794039	NONHSAT007078
3	lnc-SLAMF7-9	chr1:160793256-160793586	NONHSAT007078

Extended variants
information (count: 31 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150455320	chr1:160793440-160793441	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs474131	chr1:160793442-160793443	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs146895414	chr1:160793445-160793446	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs557248221	chr1:160793451-160793452	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs149452658	chr1:160793459-160793460	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs141288656	chr1:160793461-160793462	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs573836033	chr1:160793485-160793486	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs201014786	chr1:160793512-160793513	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs566617154	chr1:160793513-160793514	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs41266935	chr1:160793529-160793530	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs539225401	chr1:160793542-160793543	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs144157867	chr1:160793545-160793546	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs509749	chr1:160793560-160793561	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs202223592	chr1:160793594-160793595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368291623	chr1:160793614-160793615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375962032	chr1:160793625-160793626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115261308	chr1:160793633-160793634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567983334	chr1:160793693-160793694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530318986	chr1:160793706-160793707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112678580	chr1:160793713-160793714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117742516	chr1:160793718-160793719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142346924	chr1:160793736-160793737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538498189	chr1:160793883-160793884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529324462	chr1:160793895-160793896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534719082	chr1:160793910-160793911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557853287	chr1:160793914-160793915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571341810	chr1:160793916-160793917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201275629	chr1:160793931-160793932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76313878	chr1:160793943-160793944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs506081	chr1:160793962-160793963	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs200750959	chr1:160793965-160793966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160771000-160806600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:160778000-160795600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:160778000-160798400	Strong transcription	Primary B cells from peripheral blood	blood
4	chr1:160778400-160799600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:160782400-160798200	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr1:160782600-160803200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:160783800-160798200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:160783800-160801000	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:160783800-160803200	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr1:160790000-160794200	Strong transcription	Primary B cells from cord blood	blood
11	chr1:160790600-160803000	Strong transcription	Primary T cells from cord blood	blood
12	chr1:160791000-160794400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:160791200-160795000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:160791200-160798200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:160791200-160800000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:160792000-160794000	Strong transcription	Thymus	Thymus
17	chr1:160792400-160794400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:160792400-160794400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr1:160792400-160798600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr1:160792600-160794400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:160792800-160794000	Strong transcription	Spleen	Spleen
22	chr1:160792800-160794200	Strong transcription	Fetal Thymus	thymus
23	chr1:160793000-160811600	Weak transcription	Gastric	stomach
24	chr1:160793200-160793400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:160793200-160794400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:160793400-160807400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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