Variant report

Variant	nsv983028
Chromosome Location	chr11:59975193-59977761
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

miRNA name	Chromosome Location	mirBase accession
hsa-miR-6503-3p	chr11:59976557-59976577	MIMAT0025463
hsa-miR-6503-5p	chr11:59976591-59976613	MIMAT0025462

Extended variants
information (count: 111 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193255645	chr11:59975315-59975316	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182541067	chr11:59975338-59975339	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534001384	chr11:59975390-59975391	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549391083	chr11:59975393-59975394	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11230191	chr11:59975400-59975401	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs370790397	chr11:59975403-59975404	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186976384	chr11:59975456-59975457	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538189311	chr11:59975467-59975468	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12422193	chr11:59975545-59975546	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs112107560	chr11:59975569-59975570	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553658766	chr11:59975586-59975587	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572123044	chr11:59975645-59975646	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542343899	chr11:59975646-59975647	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201627415	chr11:59975679-59975680	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191704696	chr11:59975680-59975681	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367897511	chr11:59975690-59975691	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35363525	chr11:59975709-59975710	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34522595	chr11:59975710-59975711	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562843790	chr11:59975807-59975808	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146798163	chr11:59975825-59975826	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58774671	chr11:59975826-59975827	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs559035065	chr11:59975879-59975880	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576557244	chr11:59975881-59975882	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527812898	chr11:59975908-59975909	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549204546	chr11:59975909-59975910	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567704009	chr11:59975924-59975925	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538252413	chr11:59975927-59975928	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184297400	chr11:59975935-59975936	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550152810	chr11:59975965-59975966	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575524918	chr11:59975998-59975999	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538901763	chr11:59976001-59976002	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553969495	chr11:59976033-59976034	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572127780	chr11:59976058-59976059	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188749563	chr11:59976086-59976087	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554361372	chr11:59976098-59976099	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs386754053	chr11:59976111-59976112	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs674971	chr11:59976113-59976114	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs140706388	chr11:59976157-59976158	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76110614	chr11:59976162-59976163	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192853978	chr11:59976163-59976164	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35610213	chr11:59976188-59976189	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560783675	chr11:59976189-59976190	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527871242	chr11:59976232-59976233	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs675452	chr11:59976240-59976241	Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs561370943	chr11:59976268-59976269	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531812350	chr11:59976275-59976276	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550216105	chr11:59976312-59976313	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146639515	chr11:59976353-59976354	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574959521	chr11:59976365-59976366	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547374003	chr11:59976368-59976369	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Lung adenocarcinoma	17086460	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Chordoma	18071362	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59973600-59984200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr11:59973800-59982000	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr11:59974600-59975600	Weak transcription	HMEC	breast
4	chr11:59974800-59976800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:59974800-59977000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr11:59975000-59976200	Weak transcription	GM12878-XiMat	blood
7	chr11:59975200-59975400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:59975200-59976200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:59975400-59976200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:59975600-59976200	Enhancers	HMEC	breast
11	chr11:59975800-59976200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:59975800-59977000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr11:59975800-59977200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr11:59976000-59976200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:59976000-59976200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:59976000-59977800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr11:59976800-59977000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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