Variant report

Variant	nsv556478
Chromosome Location	chr11:121816920-121840829
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:121815543..121818136-chr11:121836975..121839770,2	K562	blood:
2	chr11:121815543..121818136-chr11:121836975..121839770,2	K562	blood:
3	chr11:121822688..121824829-chr11:121928249..121930880,2	K562	blood:

Extended variants
information (count: 815 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:815 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1375014	chr11:121816920-121816921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs367910723	chr11:121816955-121816956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141724658	chr11:121816976-121816977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559613465	chr11:121816986-121816987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184768248	chr11:121817038-121817039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190095322	chr11:121817042-121817043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570318968	chr11:121817060-121817061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539528702	chr11:121817091-121817092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558253771	chr11:121817098-121817099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113075954	chr11:121817099-121817100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371651439	chr11:121817108-121817109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1375015	chr11:121817109-121817110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs548992721	chr11:121817152-121817153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555995584	chr11:121817170-121817171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368977365	chr11:121817171-121817172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567302483	chr11:121817230-121817231	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs373952964	chr11:121817265-121817266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs534397072	chr11:121817365-121817366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs116179909	chr11:121817395-121817396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs536782793	chr11:121820002-121820003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191332693	chr11:121820003-121820004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12420643	chr11:121820016-121820017	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540837410	chr11:121820045-121820046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184537746	chr11:121820108-121820109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12288682	chr11:121820152-121820153	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs543803779	chr11:121820174-121820175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574328203	chr11:121820195-121820196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562186972	chr11:121820203-121820204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76377882	chr11:121820204-121820205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541556085	chr11:121820273-121820274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144746238	chr11:121820334-121820335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147898843	chr11:121820403-121820404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112334931	chr11:121820416-121820417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535340512	chr11:121820452-121820453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371324655	chr11:121820489-121820490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1944939	chr11:121820498-121820499	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs77315380	chr11:121820560-121820561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571909572	chr11:121820568-121820569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142925979	chr11:121820638-121820639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188772938	chr11:121820732-121820733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11606482	chr11:121820734-121820735	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs548359319	chr11:121820751-121820752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs193295299	chr11:121820793-121820794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529604543	chr11:121820903-121820904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534086673	chr11:121820924-121820925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559153077	chr11:121821052-121821053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547772683	chr11:121821055-121821056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12421071	chr11:121821056-121821057	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs536720954	chr11:121821062-121821063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111931163	chr11:121821065-121821066	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Squamous cell cancer	20885788	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21385341	CNVD
Multiple myeloma	16461302	CNVD
Burkitt''s lymphoma	18698080	CNVD
Prostate cancer	23792589	CNVD
Effusion lymphoma	18079361	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:233 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121812000-121817200	Weak transcription	Left Ventricle	heart
2	chr11:121817200-121817400	ZNF genes & repeats	Left Ventricle	heart
3	chr11:121820000-121820200	Enhancers	Fetal Brain Male	brain
4	chr11:121820200-121820800	Weak transcription	Fetal Brain Male	brain
5	chr11:121820400-121821600	Enhancers	HepG2	liver
6	chr11:121820800-121821600	Enhancers	Fetal Brain Male	brain
7	chr11:121821000-121821600	Enhancers	HSMMtube	muscle
8	chr11:121821400-121821800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr11:121821600-121823600	Weak transcription	HepG2	liver
10	chr11:121822800-121824200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:121822800-121825000	Enhancers	Liver	Liver
12	chr11:121823000-121824200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr11:121823400-121824200	Enhancers	Brain Substantia Nigra	brain
14	chr11:121823600-121824000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr11:121823600-121824400	Enhancers	HepG2	liver
16	chr11:121824000-121832000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr11:121824200-121829400	Weak transcription	Brain Substantia Nigra	brain
18	chr11:121824200-121829600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:121824200-121831800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:121825000-121829600	Weak transcription	Liver	Liver
21	chr11:121828600-121830000	Enhancers	Brain Germinal Matrix	brain
22	chr11:121829000-121829400	Enhancers	NHDF-Ad	bronchial
23	chr11:121829000-121830200	Enhancers	Fetal Stomach	stomach
24	chr11:121829400-121829600	Flanking Active TSS	NHDF-Ad	bronchial
25	chr11:121829400-121829800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:121829400-121829800	Enhancers	Brain Anterior Caudate	brain
27	chr11:121829400-121829800	Enhancers	Brain Substantia Nigra	brain
28	chr11:121829400-121830200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:121829400-121830200	Enhancers	Brain Cingulate Gyrus	brain
30	chr11:121829400-121830400	Enhancers	Fetal Lung	lung
31	chr11:121829400-121830600	Enhancers	NHEK	skin
32	chr11:121829600-121829800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:121829600-121829800	Enhancers	NHDF-Ad	bronchial
34	chr11:121829600-121829800	Enhancers	Osteobl	bone
35	chr11:121829600-121830000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr11:121829600-121830000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:121829600-121830000	Enhancers	Fetal Brain Female	brain
38	chr11:121829600-121830000	Enhancers	Fetal Muscle Trunk	muscle
39	chr11:121829600-121830000	Enhancers	HMEC	breast
40	chr11:121829600-121830000	Enhancers	HSMMtube	muscle
41	chr11:121829600-121830200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:121829600-121830200	Active TSS	Aorta	Aorta
43	chr11:121829600-121830200	Enhancers	HSMM	muscle
44	chr11:121829600-121830400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:121829600-121830400	Enhancers	Fetal Muscle Leg	muscle
46	chr11:121829600-121830400	Enhancers	Ovary	ovary
47	chr11:121829600-121830600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:121829600-121830600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:121829600-121830600	Enhancers	Liver	Liver
50	chr11:121829800-121830000	Flanking Active TSS	NHDF-Ad	bronchial

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