Variant report

Variant	nsv947216
Chromosome Location	chr1:197003904-197019809
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:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:196852522..196854884-chr1:197003323..197006250,2	K562	blood:
2	chr1:197017524..197019536-chr1:197026374..197028329,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASPM-2	chr1:197009275-197009507	NONHSAT008610
2	lnc-ASPM-2	chr1:197009652-197009865	NONHSAT008610

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	F13B	hsa-miR-26b-5p	chr1:197008392-197008411

Extended variants
information (count: 613 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:613 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141498026	chr1:197003909-197003910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145370596	chr1:197003926-197003927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570029399	chr1:197003964-197003965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537752641	chr1:197003966-197003967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556382484	chr1:197003977-197003978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189895535	chr1:197003993-197003994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs180689975	chr1:197003997-197003998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187570642	chr1:197004041-197004042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200014330	chr1:197004104-197004105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200919457	chr1:197004105-197004106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572204237	chr1:197004106-197004107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368884671	chr1:197004155-197004156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146102995	chr1:197004158-197004159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201834073	chr1:197004166-197004167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs67204741	chr1:197004167-197004168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71131739	chr1:197004169-197004170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10801585	chr1:197004170-197004171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10922156	chr1:197004194-197004195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4915267	chr1:197004267-197004268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542695450	chr1:197004268-197004269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560486977	chr1:197004321-197004322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117682604	chr1:197004328-197004329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529843998	chr1:197004334-197004335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375734745	chr1:197004359-197004360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191853412	chr1:197004373-197004374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543771827	chr1:197004395-197004396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114064703	chr1:197004463-197004464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113943352	chr1:197004467-197004468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10737685	chr1:197004484-197004485	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs74605226	chr1:197004548-197004549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183774552	chr1:197004576-197004577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6693887	chr1:197004578-197004579	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs569959621	chr1:197004579-197004580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543143424	chr1:197004592-197004593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375462130	chr1:197004702-197004703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199589385	chr1:197004731-197004732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112684780	chr1:197004734-197004735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs386369234	chr1:197004735-197004736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs386369235	chr1:197004736-197004737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188356858	chr1:197004752-197004753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550118133	chr1:197004788-197004789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571591281	chr1:197004797-197004798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190255953	chr1:197004798-197004799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115360998	chr1:197004844-197004845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572268372	chr1:197004876-197004877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182547309	chr1:197004882-197004883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535145833	chr1:197004903-197004904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114022397	chr1:197005022-197005023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76818043	chr1:197005025-197005026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553160350	chr1:197005039-197005040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	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
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197003000-197004800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:197003200-197004800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:197003400-197005000	Enhancers	NHDF-Ad	bronchial
4	chr1:197003600-197004000	Enhancers	NH-A	brain
5	chr1:197003600-197004800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:197003600-197004800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:197003600-197004800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:197003600-197004800	Enhancers	HMEC	breast
9	chr1:197003600-197004800	Enhancers	NHEK	skin
10	chr1:197003600-197005000	Enhancers	A549	lung
11	chr1:197003600-197005000	Enhancers	Osteobl	bone
12	chr1:197003800-197004000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:197003800-197004200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:197003800-197004200	Enhancers	HUVEC	blood vessel
15	chr1:197003800-197004600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:197004000-197004600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:197004200-197004600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:197004600-197005200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:197004800-197010600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:197005000-197012000	Weak transcription	A549	lung
21	chr1:197006400-197008200	Weak transcription	Liver	Liver
22	chr1:197008200-197011400	Strong transcription	Liver	Liver
23	chr1:197010600-197010800	Enhancers	GM12878-XiMat	blood
24	chr1:197010600-197011200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:197010600-197011600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:197010600-197011600	Active TSS	Osteobl	bone
27	chr1:197010800-197011000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:197010800-197011200	Enhancers	Dnd41	blood
29	chr1:197010800-197011200	Flanking Active TSS	GM12878-XiMat	blood
30	chr1:197011000-197011200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:197011000-197011400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr1:197011200-197011400	Active TSS	GM12878-XiMat	blood
33	chr1:197011400-197017400	Weak transcription	Liver	Liver
34	chr1:197011800-197012800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:197012000-197012400	Active TSS	A549	lung
36	chr1:197012000-197013400	Enhancers	HepG2	liver
37	chr1:197012600-197013000	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr1:197013200-197013600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:197017400-197029400	Strong transcription	Liver	Liver

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