Variant report

Variant	esv1806517
Chromosome Location	chr11:106828741-106831970
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10890627	chr11:106828741-106828742	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563000434	chr11:106828746-106828747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530593574	chr11:106828759-106828760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552356643	chr11:106828849-106828850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149108013	chr11:106828868-106828869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs56190931	chr11:106828886-106828887	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs191337904	chr11:106828887-106828888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71488235	chr11:106828907-106828908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546527424	chr11:106828948-106828949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117508244	chr11:106828950-106828951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535108488	chr11:106828952-106828953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71488236	chr11:106829008-106829009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143619247	chr11:106829015-106829016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182816670	chr11:106829088-106829089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539605983	chr11:106829219-106829220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558333936	chr11:106829230-106829231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573406109	chr11:106829297-106829298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187492522	chr11:106829315-106829316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200107874	chr11:106829337-106829338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57335635	chr11:106829338-106829339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs398017462	chr11:106829349-106829350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71953975	chr11:106829364-106829365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200007194	chr11:106829365-106829366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192371665	chr11:106829388-106829389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544640818	chr11:106829427-106829428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183368820	chr11:106829484-106829485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562926958	chr11:106829505-106829506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539252381	chr11:106829534-106829535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541308233	chr11:106829545-106829546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533468099	chr11:106829568-106829569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187443653	chr11:106829641-106829642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564293828	chr11:106829643-106829644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535236111	chr11:106829688-106829689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1471043	chr11:106829799-106829800	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs546467858	chr11:106829819-106829820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368094265	chr11:106829825-106829826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528823622	chr11:106829920-106829921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372651112	chr11:106829929-106829930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77344526	chr11:106829961-106829962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568814421	chr11:106829972-106829973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192734878	chr11:106829994-106829995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557608907	chr11:106830008-106830009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371991408	chr11:106830035-106830036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11211987	chr11:106830062-106830063	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs1471044	chr11:106830069-106830070	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs574403818	chr11:106830077-106830078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200882112	chr11:106830116-106830117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547187255	chr11:106830133-106830134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146328384	chr11:106830157-106830158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139631808	chr11:106830190-106830191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
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
Prostate cancer	18632612	CNVD
Obesity	19966786	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:106809000-106830400	Weak transcription	Fetal Muscle Leg	muscle
2	chr11:106822000-106829600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:106825400-106836200	Weak transcription	Fetal Brain Male	brain
4	chr11:106827200-106832600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr11:106827400-106832200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:106827400-106832400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr11:106827400-106832800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:106827600-106829600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:106827800-106830200	Enhancers	Fetal Heart	heart
10	chr11:106828200-106830200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:106828200-106830400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:106828200-106831800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:106828400-106829400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:106828400-106829400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr11:106828400-106829600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr11:106828400-106829600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:106828400-106829600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:106828400-106830200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:106828400-106830200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:106828400-106830200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:106828400-106831600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:106828400-106832400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr11:106828400-106832600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr11:106828400-106840200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:106828400-106857400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr11:106828600-106833000	Enhancers	Fetal Lung	lung
27	chr11:106828800-106829000	Enhancers	Fetal Kidney	kidney
28	chr11:106829000-106830600	Weak transcription	Fetal Kidney	kidney
29	chr11:106829000-106831600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:106829000-106831600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:106829400-106830800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr11:106829400-106832600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:106829600-106829800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr11:106829600-106829800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:106829600-106830000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:106829600-106830400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr11:106829600-106830400	Enhancers	Brain Angular Gyrus	brain
38	chr11:106829600-106830800	Enhancers	Brain Anterior Caudate	brain
39	chr11:106829600-106832000	Enhancers	NHLF	lung
40	chr11:106829600-106833000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:106829800-106830200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr11:106829800-106830200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:106830000-106832600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:106830200-106830400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:106830200-106830400	Flanking Active TSS	Fetal Heart	heart
46	chr11:106830200-106830800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:106830200-106830800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:106830200-106830800	Enhancers	Fetal Stomach	stomach
49	chr11:106830200-106830800	Enhancers	Left Ventricle	heart
50	chr11:106830200-106831000	Enhancers	H1 Cell Line	embryonic stem cell

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