Variant report

Variant	nsv548554
Chromosome Location	chr1:190458764-190496007
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:190476606..190478933-chr1:190479727..190481548,2	MCF-7	breast:
2	chr1:190481525..190484334-chr1:190501308..190503770,2	K562	blood:
3	chr1:190443878..190446178-chr1:190461343..190463264,2	K562	blood:
4	chr1:190476606..190478933-chr1:190479727..190481548,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS18-5	chr1:190462968-190463251	XLOC_000505
2	lnc-RGS18-5	chr1:190462968-190463427	ENSG00000241505

No data

Variant related genes	Relation type
ENSG00000162670	chromatin interactions
PRNP	miRNA target sites
PDLIM5	miRNA target sites

Extended variants
information (count: 167 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542751955	chr1:190461373-190461374	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs189706906	chr1:190461382-190461383	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs116451769	chr1:190461404-190461405	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs181752444	chr1:190461481-190461482	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs75066042	chr1:190461514-190461515	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs185898276	chr1:190461523-190461524	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs548141779	chr1:190461560-190461561	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs568774435	chr1:190461566-190461567	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534455985	chr1:190461632-190461633	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs75851472	chr1:190461661-190461662	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs190614387	chr1:190461671-190461672	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539952352	chr1:190461677-190461678	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182044889	chr1:190461757-190461758	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs375895434	chr1:190461782-190461783	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs539624777	chr1:190461826-190461827	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs577966582	chr1:190461834-190461835	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs814932	chr1:190461862-190461863	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs814933	chr1:190461869-190461870	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs574400489	chr1:190461990-190461991	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186382341	chr1:190462151-190462152	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs190897044	chr1:190462153-190462154	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs576604890	chr1:190462157-190462158	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs545948477	chr1:190462158-190462159	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs562467844	chr1:190462162-190462163	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs182711478	chr1:190462171-190462172	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs188051866	chr1:190462189-190462190	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs548831012	chr1:190462200-190462201	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs561020729	chr1:190462210-190462211	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs553512309	chr1:190462288-190462289	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs561661106	chr1:190462290-190462291	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531220453	chr1:190462357-190462358	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs373354799	chr1:190462380-190462381	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs571088784	chr1:190462395-190462396	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs542079240	chr1:190462412-190462413	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs539659379	chr1:190462432-190462433	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs555913401	chr1:190462469-190462470	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs550318658	chr1:190462475-190462476	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs570052661	chr1:190462490-190462491	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs549719828	chr1:190462503-190462504	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs146193216	chr1:190462532-190462533	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs555382670	chr1:190462561-190462562	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs79792128	chr1:190462571-190462572	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs191273632	chr1:190462582-190462583	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs980043	chr1:190462592-190462593	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs577040915	chr1:190462610-190462611	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs545683832	chr1:190462621-190462622	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs562663442	chr1:190462630-190462631	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs576099758	chr1:190462700-190462701	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs11808282	chr1:190462732-190462733	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs563653364	chr1:190462764-190462765	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	21080181	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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190463000-190463400	Enhancers	Gastric	stomach
2	chr1:190463600-190464200	Enhancers	Fetal Heart	heart
3	chr1:190480000-190480800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:190480200-190481600	Enhancers	Fetal Heart	heart
5	chr1:190480600-190481000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:190480600-190481000	Active TSS	Brain Anterior Caudate	brain
7	chr1:190480800-190481400	Active TSS	Brain Cingulate Gyrus	brain

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