Variant report

Variant	nsv976501
Chromosome Location	chr11:104493792-104496812
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551157834	chr11:104493833-104493834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571136892	chr11:104493867-104493868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536730576	chr11:104493877-104493878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370389354	chr11:104493892-104493893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556985681	chr11:104493923-104493924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150683978	chr11:104493945-104493946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139904363	chr11:104494023-104494024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553014015	chr11:104494062-104494063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572770473	chr11:104494082-104494083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375537587	chr11:104494108-104494109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562168567	chr11:104494113-104494114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114119168	chr11:104494135-104494136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558363907	chr11:104494291-104494292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531175770	chr11:104494311-104494312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74690236	chr11:104494325-104494326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550947634	chr11:104494335-104494336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543674027	chr11:104494370-104494371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563753242	chr11:104494380-104494381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74399973	chr11:104494429-104494430	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs376165405	chr11:104494464-104494465	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs529375496	chr11:104494506-104494507	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs7935104	chr11:104494548-104494549	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs370547248	chr11:104494550-104494551	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs567497672	chr11:104494617-104494618	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs527390229	chr11:104494685-104494686	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs11226447	chr11:104494695-104494696	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs528347075	chr11:104494700-104494701	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs377364729	chr11:104494716-104494717	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs551295343	chr11:104494746-104494747	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs564851440	chr11:104494778-104494779	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs182656700	chr11:104494783-104494784	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs147925626	chr11:104494797-104494798	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs567313798	chr11:104494813-104494814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536004316	chr11:104494823-104494824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs118032670	chr11:104494833-104494834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547607599	chr11:104494848-104494849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553116808	chr11:104494881-104494882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79979048	chr11:104494932-104494933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186973915	chr11:104494944-104494945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567305048	chr11:104494955-104494956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191341395	chr11:104494961-104494962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs578188057	chr11:104494975-104494976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537610130	chr11:104495004-104495005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183524958	chr11:104495043-104495044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187780682	chr11:104495058-104495059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116462939	chr11:104495063-104495064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193156411	chr11:104495110-104495111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572865429	chr11:104495132-104495133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563593588	chr11:104495167-104495168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529280736	chr11:104495207-104495208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Melanoma	17363583	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Obesity	19966786	CNVD
Tetralogy of Fallot	22912587	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104489800-104494000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:104493000-104496400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr11:104493000-104496400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr11:104493000-104496600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr11:104493200-104494400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:104493200-104495400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr11:104493200-104496400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr11:104493400-104496000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:104493400-104496400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr11:104493400-104496400	Enhancers	NHLF	lung
11	chr11:104493800-104494800	Enhancers	NHDF-Ad	bronchial
12	chr11:104493800-104495000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:104493800-104496400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr11:104494000-104494200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:104494000-104494400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:104494000-104495000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:104494000-104495200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:104494200-104494600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:104494200-104495000	Enhancers	NHEK	skin
20	chr11:104494200-104495400	Enhancers	NH-A	brain
21	chr11:104494400-104494600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr11:104494400-104494600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:104494400-104494800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr11:104494400-104495000	Enhancers	HUVEC	blood vessel
25	chr11:104494400-104495000	Enhancers	Osteobl	bone
26	chr11:104494400-104495200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:104494400-104495200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:104494400-104496200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr11:104494600-104495400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:104494600-104495600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:104494800-104495200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr11:104494800-104496000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr11:104494800-104496000	Weak transcription	NHDF-Ad	bronchial
34	chr11:104494800-104496400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr11:104495000-104496000	Weak transcription	HUVEC	blood vessel
36	chr11:104495000-104497600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:104495200-104495600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:104495400-104495800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr11:104495400-104495800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:104495400-104495800	Weak transcription	NH-A	brain
41	chr11:104495600-104496400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:104495600-104496400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:104495800-104496200	Enhancers	NH-A	brain
44	chr11:104495800-104496400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr11:104495800-104496400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:104496000-104496200	Enhancers	HUVEC	blood vessel
47	chr11:104496000-104496400	Enhancers	H1 Cell Line	embryonic stem cell
48	chr11:104496000-104496400	Enhancers	H9 Cell Line	embryonic stem cell
49	chr11:104496000-104496400	Enhancers	Fetal Heart	heart
50	chr11:104496000-104496400	Enhancers	NHDF-Ad	bronchial

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