Variant report

Variant	nsv520375
Chromosome Location	chr11:56669830-56704042
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1360 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1360 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs737368	chr11:56669830-56669831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549327195	chr11:56669843-56669844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184741242	chr11:56669845-56669846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531746656	chr11:56669927-56669928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549853707	chr11:56669935-56669936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566398730	chr11:56669945-56669946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571353582	chr11:56669947-56669948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538649941	chr11:56669949-56669950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547344417	chr11:56669994-56669995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566667094	chr11:56670045-56670046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1783464	chr11:56670053-56670054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs555298347	chr11:56670084-56670085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370558071	chr11:56670089-56670090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537982363	chr11:56670091-56670092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556292079	chr11:56670095-56670096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs731744	chr11:56670113-56670114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs545032992	chr11:56670122-56670123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530315991	chr11:56670155-56670156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572672189	chr11:56670177-56670178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547258819	chr11:56670346-56670347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565739913	chr11:56670375-56670376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568936625	chr11:56670387-56670388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561363905	chr11:56670421-56670422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34250458	chr11:56670470-56670471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs371499744	chr11:56670476-56670477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543562710	chr11:56670479-56670480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565046740	chr11:56670526-56670527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187550258	chr11:56670527-56670528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547407439	chr11:56670587-56670588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568668167	chr11:56670597-56670598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551063293	chr11:56670616-56670617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192190325	chr11:56670696-56670697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539971935	chr11:56670733-56670734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184223524	chr11:56670771-56670772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150481826	chr11:56670776-56670777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188885076	chr11:56670805-56670806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1792509	chr11:56670810-56670811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs181522530	chr11:56670814-56670815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571381312	chr11:56670827-56670828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538709433	chr11:56670832-56670833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553516516	chr11:56670854-56670855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571997192	chr11:56670862-56670863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11228833	chr11:56670895-56670896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs78243797	chr11:56670932-56670933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138547596	chr11:56670965-56670966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140213449	chr11:56670984-56670985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11228834	chr11:56671014-56671015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11228835	chr11:56671061-56671062	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs370395172	chr11:56671087-56671088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145352327	chr11:56671106-56671107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Breast cancer	17142309	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56663800-56672400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:56671000-56671600	Enhancers	Stomach Mucosa	stomach
3	chr11:56671600-56674000	Weak transcription	Stomach Mucosa	stomach
4	chr11:56672200-56673800	ZNF genes & repeats	A549	lung
5	chr11:56672400-56673200	Enhancers	NHEK	skin
6	chr11:56672400-56673800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:56672400-56673800	Enhancers	HMEC	breast
8	chr11:56672400-56674400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:56672400-56675800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:56673000-56674600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:56673200-56673400	Flanking Active TSS	NHEK	skin
12	chr11:56673200-56673600	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr11:56673200-56674600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr11:56673400-56673800	Enhancers	NHEK	skin
15	chr11:56673600-56677400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr11:56673800-56674000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:56673800-56674000	Enhancers	A549	lung
18	chr11:56673800-56674000	Flanking Active TSS	HMEC	breast
19	chr11:56673800-56675000	Flanking Active TSS	NHEK	skin
20	chr11:56674000-56674400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:56674000-56674400	Enhancers	HMEC	breast
22	chr11:56674000-56674600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:56674000-56674600	Enhancers	Stomach Mucosa	stomach
24	chr11:56674000-56675200	Flanking Active TSS	A549	lung
25	chr11:56674400-56674600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:56674400-56674800	Flanking Active TSS	HMEC	breast
27	chr11:56674400-56675000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:56674600-56675800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:56674600-56676600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr11:56674600-56677600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:56674600-56677800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:56674800-56675800	Enhancers	HMEC	breast
33	chr11:56675000-56675600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:56675000-56675600	Enhancers	NHEK	skin
35	chr11:56675200-56675400	Enhancers	A549	lung
36	chr11:56675400-56676600	Genic enhancers	A549	lung
37	chr11:56675600-56677200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:56675600-56677200	Weak transcription	NHEK	skin
39	chr11:56675800-56676600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:56675800-56676600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:56675800-56676600	Weak transcription	HMEC	breast
42	chr11:56676600-56676800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:56676600-56676800	Transcr. at gene 5' and 3'	A549	lung
44	chr11:56676600-56678200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:56676600-56678200	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr11:56676600-56679200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:56676600-56679200	Enhancers	HMEC	breast
48	chr11:56676800-56677400	Flanking Active TSS	A549	lung
49	chr11:56677000-56678200	Enhancers	Fetal Intestine Large	intestine
50	chr11:56677200-56677400	Enhancers	Fetal Lung	lung

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