Variant report

Variant	esv3348818
Chromosome Location	chr11:105670442-105673640
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188925762	chr11:105670550-105670551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76860658	chr11:105670554-105670555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577470939	chr11:105670595-105670596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560628122	chr11:105670596-105670597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191798105	chr11:105670640-105670641	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs542978784	chr11:105670678-105670679	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs184690710	chr11:105670692-105670693	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs7129285	chr11:105670723-105670724	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs540938978	chr11:105670739-105670740	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs555993153	chr11:105670741-105670742	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs373343212	chr11:105670752-105670753	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs200214137	chr11:105670811-105670812	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs376921549	chr11:105670814-105670815	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs541841561	chr11:105670819-105670820	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs532257217	chr11:105670835-105670836	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs552442146	chr11:105670858-105670859	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs376994691	chr11:105670867-105670868	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs530563945	chr11:105670893-105670894	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs545444612	chr11:105670903-105670904	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs180962303	chr11:105670908-105670909	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs370352988	chr11:105670912-105670913	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs35158473	chr11:105670931-105670932	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs373707580	chr11:105670958-105670959	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs528235511	chr11:105670966-105670967	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs544811982	chr11:105670996-105670997	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs568372174	chr11:105671004-105671005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185905326	chr11:105671008-105671009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35326166	chr11:105671121-105671122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189514214	chr11:105671127-105671128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181905886	chr11:105671161-105671162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143415502	chr11:105671163-105671164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368138008	chr11:105671174-105671175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs72985126	chr11:105671190-105671191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186265652	chr11:105671194-105671195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558245985	chr11:105671211-105671212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567086998	chr11:105671290-105671291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534378481	chr11:105671296-105671297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370386283	chr11:105671423-105671424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555664372	chr11:105671424-105671425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574314802	chr11:105671433-105671434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190538585	chr11:105671441-105671442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139361043	chr11:105671443-105671444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181527442	chr11:105671457-105671458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368893822	chr11:105671489-105671490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201540158	chr11:105671502-105671503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141692488	chr11:105671505-105671506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35248646	chr11:105671506-105671507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs5794425	chr11:105671510-105671511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567732005	chr11:105671543-105671544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374330011	chr11:105671586-105671587	Weak transcription	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
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
Prostate cancer	18632612	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:105658000-105689400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:105658200-105693200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:105659800-105672600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:105669800-105671000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr11:105670000-105670800	Enhancers	Brain Hippocampus Middle	brain
6	chr11:105670000-105671000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:105670400-105671000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr11:105670400-105671400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr11:105670600-105671000	Active TSS	Brain Anterior Caudate	brain
10	chr11:105670600-105671200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr11:105670600-105671200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr11:105670600-105671200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr11:105670600-105671200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr11:105670600-105671200	Enhancers	HUVEC	blood vessel
15	chr11:105672600-105672800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:105672600-105672800	Enhancers	Brain Anterior Caudate	brain
17	chr11:105672600-105673000	Enhancers	Brain Cingulate Gyrus	brain

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