Variant report

Variant	nsv975255
Chromosome Location	chr11:71374103-71376017
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr11:71376009-71376908	GM12878	blood:	n/a	n/a
2	SIX5	chr11:71374773-71374978	GM12878	blood:	n/a	n/a
3	SPI1	chr11:71373982-71374122	K562	blood:	n/a	chr11:71374054-71374061 chr11:71374050-71374063

Variant related genes	Relation type
ENSG00000221458	TF binding region
RPS3AP41	TF binding region

Extended variants
information (count: 80 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557131424	chr11:71374116-71374117	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs575415617	chr11:71374119-71374120	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs542536726	chr11:71374145-71374146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112310762	chr11:71374150-71374151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189623545	chr11:71374175-71374176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528062274	chr11:71374200-71374201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539882562	chr11:71374211-71374212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181886086	chr11:71374221-71374222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549029467	chr11:71374241-71374242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185427211	chr11:71374257-71374258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551641755	chr11:71374288-71374289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201338641	chr11:71374323-71374324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368596676	chr11:71374334-71374335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372822633	chr11:71374359-71374360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199833008	chr11:71374362-71374363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200741004	chr11:71374411-71374412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201403659	chr11:71374429-71374430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549674333	chr11:71374488-71374489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568002182	chr11:71374493-71374494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535016831	chr11:71374506-71374507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546977522	chr11:71374524-71374525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571611377	chr11:71374548-71374549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539139329	chr11:71374557-71374558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556851443	chr11:71374562-71374563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs80206646	chr11:71374579-71374580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74414945	chr11:71374582-71374583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201116548	chr11:71374590-71374591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202065209	chr11:71374596-71374597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28455706	chr11:71374598-71374599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs200515420	chr11:71374629-71374630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371945497	chr11:71374641-71374642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61890126	chr11:71374738-71374739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11234428	chr11:71374742-71374743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539795284	chr11:71374763-71374764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564905314	chr11:71374796-71374797	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs576827544	chr11:71374827-71374828	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs9704484	chr11:71374842-71374843	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs200070379	chr11:71374886-71374887	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs200843873	chr11:71374893-71374894	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs562469803	chr11:71374895-71374896	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs201645233	chr11:71374899-71374900	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs531108057	chr11:71374914-71374915	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs199860625	chr11:71375027-71375028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9704632	chr11:71375044-71375045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549647916	chr11:71375058-71375059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200972133	chr11:71375068-71375069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561521972	chr11:71375100-71375101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538792044	chr11:71375124-71375125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201821034	chr11:71375131-71375132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7945175	chr11:71375132-71375133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71368200-71395600	Weak transcription	Fetal Intestine Small	intestine

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