Variant report

Variant	esv2753555
Chromosome Location	chr11:121630790-121646790
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:121632571..121635461-chr11:121638427..121640406,2	K562	blood:
2	chr11:121632571..121635461-chr11:121638427..121640406,2	K562	blood:
3	chr11:121632571..121635609-chr11:121638427..121640448,3	K562	blood:
4	chr11:121632571..121635609-chr11:121638427..121640448,3	K562	blood:
5	chr11:121624323..121626463-chr11:121639870..121641598,2	K562	blood:

Extended variants
information (count: 666 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:666 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540988366	chr11:121630795-121630796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147984160	chr11:121630839-121630840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547381185	chr11:121630851-121630852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71486390	chr11:121630907-121630908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532208997	chr11:121630915-121630916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550422456	chr11:121630922-121630923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568984640	chr11:121630932-121630933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111651978	chr11:121630963-121630964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183423180	chr11:121630966-121630967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79543594	chr11:121630973-121630974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373056270	chr11:121631016-121631017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554843549	chr11:121631077-121631078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540132829	chr11:121631087-121631088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140659323	chr11:121631091-121631092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150120022	chr11:121631115-121631116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138704386	chr11:121631124-121631125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551750784	chr11:121631140-121631141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187170284	chr11:121631182-121631183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17125802	chr11:121631190-121631191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs557178151	chr11:121631211-121631212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11218394	chr11:121631221-121631222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs556328603	chr11:121631235-121631236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142819944	chr11:121631272-121631273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542805049	chr11:121631290-121631291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561182010	chr11:121631291-121631292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528739997	chr11:121631312-121631313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540548500	chr11:121631315-121631316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192099323	chr11:121631319-121631320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532023817	chr11:121631343-121631344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182633997	chr11:121631344-121631345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187761395	chr11:121631454-121631455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114493685	chr11:121631533-121631534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191876324	chr11:121631538-121631539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116500397	chr11:121631570-121631571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201908884	chr11:121631588-121631589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34724812	chr11:121631589-121631590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11218395	chr11:121631616-121631617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35631672	chr11:121631633-121631634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11218396	chr11:121631665-121631666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10736513	chr11:121631669-121631670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs147404035	chr11:121631684-121631685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571571650	chr11:121631705-121631706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538652871	chr11:121631727-121631728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149043562	chr11:121631731-121631732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57157790	chr11:121631791-121631792	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs182624326	chr11:121631896-121631897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138231974	chr11:121631951-121631952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187661780	chr11:121631953-121631954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11218397	chr11:121631980-121631981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149538793	chr11:121632026-121632027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
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

Chromatin state (count:202 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121620800-121632000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:121625600-121633600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:121625800-121632800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:121626200-121633800	Weak transcription	Fetal Kidney	kidney
5	chr11:121626400-121633200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:121627000-121633200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:121627200-121633200	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:121627200-121633400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:121628200-121632200	Weak transcription	Fetal Brain Female	brain
10	chr11:121628400-121632000	Weak transcription	Fetal Stomach	stomach
11	chr11:121628600-121632000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:121628800-121633200	Weak transcription	Brain Substantia Nigra	brain
13	chr11:121628800-121636200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:121629200-121633400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:121632000-121632200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:121632000-121633400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:121632000-121633600	Enhancers	Brain Anterior Caudate	brain
18	chr11:121632000-121634800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr11:121632000-121634800	Enhancers	Fetal Stomach	stomach
20	chr11:121632200-121633400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:121632200-121633400	Enhancers	Fetal Brain Female	brain
22	chr11:121632600-121633400	Enhancers	Brain Germinal Matrix	brain
23	chr11:121632600-121634000	Enhancers	Fetal Muscle Trunk	muscle
24	chr11:121632600-121634000	Enhancers	Fetal Muscle Leg	muscle
25	chr11:121632800-121633400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr11:121632800-121634200	Enhancers	Fetal Brain Male	brain
27	chr11:121633200-121633400	Enhancers	Brain Hippocampus Middle	brain
28	chr11:121633200-121633400	Enhancers	Stomach Smooth Muscle	stomach
29	chr11:121633200-121633600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:121633200-121633600	Enhancers	Brain Substantia Nigra	brain
31	chr11:121633200-121634000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr11:121633200-121634000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:121633200-121635000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr11:121633200-121635000	Enhancers	Primary B cells from peripheral blood	blood
35	chr11:121633200-121635400	Enhancers	Primary B cells from cord blood	blood
36	chr11:121633400-121633600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:121633400-121633600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:121633400-121633600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:121633400-121633600	Enhancers	Brain Angular Gyrus	brain
40	chr11:121633400-121633600	Enhancers	Brain Cingulate Gyrus	brain
41	chr11:121633400-121633600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:121633400-121633800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:121633400-121633800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:121633400-121633800	Bivalent Enhancer	HMEC	breast
45	chr11:121633400-121633800	Bivalent Enhancer	NHEK	skin
46	chr11:121633400-121634000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:121633400-121634000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:121633400-121634000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:121633400-121634000	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr11:121633400-121634000	Flanking Active TSS	Brain Hippocampus Middle	brain

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