Variant report

Variant	nsv524860
Chromosome Location	chr1:211152696-211155614
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12084848	chr1:211152696-211152697	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34961433	chr1:211152698-211152699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556722651	chr1:211152730-211152731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570486873	chr1:211152777-211152778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74526024	chr1:211152799-211152800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566221361	chr1:211152887-211152888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375585626	chr1:211152898-211152899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77276487	chr1:211152952-211152953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558060787	chr1:211153011-211153012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368528745	chr1:211153013-211153014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181314866	chr1:211153026-211153027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185146849	chr1:211153133-211153134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574101613	chr1:211153143-211153144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541412344	chr1:211153145-211153146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373674021	chr1:211153238-211153239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1501544	chr1:211153252-211153253	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs201950346	chr1:211153253-211153254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572234205	chr1:211153274-211153275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371562339	chr1:211153285-211153286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546034838	chr1:211153286-211153287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542474875	chr1:211153334-211153335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1393026	chr1:211153359-211153360	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs76622616	chr1:211153361-211153362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17017090	chr1:211153401-211153402	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs561429239	chr1:211153410-211153411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190076281	chr1:211153476-211153477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115061703	chr1:211153477-211153478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566404070	chr1:211153513-211153514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547816512	chr1:211153529-211153530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs80330071	chr1:211153554-211153555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539756481	chr1:211153577-211153578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1501545	chr1:211153638-211153639	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs570286276	chr1:211153647-211153648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537609448	chr1:211153655-211153656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555922674	chr1:211153660-211153661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574176440	chr1:211153757-211153758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535055953	chr1:211153758-211153759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553099275	chr1:211153836-211153837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577921981	chr1:211153848-211153849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182295364	chr1:211153925-211153926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187353376	chr1:211153945-211153946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544587078	chr1:211153956-211153957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7517771	chr1:211153958-211153959	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs575866659	chr1:211154032-211154033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569594241	chr1:211154034-211154035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536920555	chr1:211154035-211154036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533207469	chr1:211154082-211154083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528946460	chr1:211154087-211154088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs57591026	chr1:211154162-211154163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199956068	chr1:211154163-211154164	Weak transcription Strong transcription	n/a	n/a	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
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
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
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211152000-211152800	Enhancers	HSMMtube	muscle
2	chr1:211152400-211153200	Weak transcription	HSMM	muscle
3	chr1:211152400-211154200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:211152600-211169400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:211152800-211183400	Weak transcription	HSMMtube	muscle
6	chr1:211153200-211154200	Strong transcription	HSMM	muscle
7	chr1:211154200-211155400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:211154200-211155400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:211154200-211161800	Weak transcription	HSMM	muscle
10	chr1:211154400-211154600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:211154400-211154600	Enhancers	Osteobl	bone
12	chr1:211154400-211155400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:211155200-211155400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:211155200-211155400	Enhancers	Osteobl	bone
15	chr1:211155400-211161200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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