Variant report

Variant	nsv523318
Chromosome Location	chr1:161232772-161234883
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161227688..161230234-chr1:161234768..161237380,2	MCF-7	breast:
2	chr1:161229889..161232448-chr1:161233494..161236139,3	K562	blood:
3	chr1:161195743..161197397-chr1:161231826..161233832,2	K562	blood:

Variant related genes	Relation type
ENSG00000263548	chromatin interactions
ENSG00000158882	chromatin interactions
ENSG00000248485	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2501862	chr1:161232772-161232773	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115100039	chr1:161232812-161232813	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs557785740	chr1:161232825-161232826	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs571307561	chr1:161232834-161232835	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs565459758	chr1:161232835-161232836	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs531178991	chr1:161232845-161232846	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs192880638	chr1:161233020-161233021	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs147957868	chr1:161233028-161233029	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs553504365	chr1:161233029-161233030	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs59664221	chr1:161233031-161233032	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs199502775	chr1:161233038-161233039	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs12036229	chr1:161233039-161233040	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs369720044	chr1:161233095-161233096	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs540564845	chr1:161233123-161233124	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs552902880	chr1:161233140-161233141	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs572953190	chr1:161233184-161233185	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs11265576	chr1:161233193-161233194	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs564926537	chr1:161233239-161233240	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs185867603	chr1:161233264-161233265	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs201363017	chr1:161233276-161233277	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs12743091	chr1:161233291-161233292	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs561597058	chr1:161233307-161233308	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs28460156	chr1:161233309-161233310	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs140655634	chr1:161233378-161233379	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs11355401	chr1:161233393-161233394	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs530340869	chr1:161233409-161233410	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs189368795	chr1:161233443-161233444	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs141362365	chr1:161233466-161233467	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs73023877	chr1:161233473-161233474	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs191551653	chr1:161233511-161233512	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs73023879	chr1:161233520-161233521	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs183852104	chr1:161233539-161233540	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs143283328	chr1:161233584-161233585	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs188174288	chr1:161233635-161233636	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs151285588	chr1:161233637-161233638	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs112017523	chr1:161233644-161233645	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs545082743	chr1:161233648-161233649	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs113202954	chr1:161233667-161233668	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs12730275	chr1:161233685-161233686	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs12730277	chr1:161233690-161233691	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs12039498	chr1:161233720-161233721	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs575353532	chr1:161233725-161233726	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs544558313	chr1:161233761-161233762	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs558811166	chr1:161233800-161233801	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs561132825	chr1:161233812-161233813	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs12039525	chr1:161233830-161233831	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs573852346	chr1:161233836-161233837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77207166	chr1:161233844-161233845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12726591	chr1:161233874-161233875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555821532	chr1:161233876-161233877	Weak 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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161229400-161234800	Weak transcription	Ovary	ovary
2	chr1:161231200-161235400	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:161231400-161233000	Weak transcription	Lung	lung
4	chr1:161231400-161235000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:161231600-161235000	Weak transcription	Placenta	Placenta
6	chr1:161231600-161235800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:161231600-161236000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:161231800-161235200	Weak transcription	Fetal Heart	heart
9	chr1:161231800-161235800	Weak transcription	Brain Anterior Caudate	brain
10	chr1:161232000-161236600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:161232400-161235200	Weak transcription	Fetal Stomach	stomach
12	chr1:161232600-161235200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:161232600-161237000	Weak transcription	GM12878-XiMat	blood
14	chr1:161233400-161237000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:161234800-161237600	Enhancers	Ovary	ovary

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