Variant report

Variant	esv2761707
Chromosome Location	chr11:108763836-108772204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108769970..108771676-chr11:108772383..108774669,2	K562	blood:

Extended variants
information (count: 322 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541846084	chr11:108763941-108763942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34494993	chr11:108763973-108763974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs137878330	chr11:108764033-108764034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149469957	chr11:108764060-108764061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530785073	chr11:108764079-108764080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552163465	chr11:108764102-108764103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553116184	chr11:108764148-108764149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566413334	chr11:108764158-108764159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75564342	chr11:108764165-108764166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs58113333	chr11:108764233-108764234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs552029756	chr11:108764241-108764242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553131266	chr11:108764271-108764272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143873509	chr11:108764309-108764310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149756501	chr11:108764334-108764335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs397809506	chr11:108764344-108764345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372581024	chr11:108764351-108764352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535688831	chr11:108764448-108764449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2553751	chr11:108764449-108764450	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs575854805	chr11:108764466-108764467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75396044	chr11:108764492-108764493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186865998	chr11:108764521-108764522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369918129	chr11:108764534-108764535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557579397	chr11:108764578-108764579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115674336	chr11:108764606-108764607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561715775	chr11:108764642-108764643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2553750	chr11:108764663-108764664	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs374230551	chr11:108764742-108764743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2726896	chr11:108764767-108764768	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs192945437	chr11:108764771-108764772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2553749	chr11:108764812-108764813	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs185068704	chr11:108764814-108764815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576629160	chr11:108764823-108764824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142121458	chr11:108764891-108764892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147501537	chr11:108764913-108764914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547039528	chr11:108764917-108764918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373679321	chr11:108764924-108764925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560149453	chr11:108764960-108764961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553705173	chr11:108765003-108765004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527599604	chr11:108765034-108765035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536000719	chr11:108765189-108765190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190362469	chr11:108765239-108765240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552471563	chr11:108765271-108765272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573233639	chr11:108765301-108765302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540180607	chr11:108765354-108765355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114050879	chr11:108765400-108765401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542241099	chr11:108765406-108765407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193074732	chr11:108765418-108765419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185083400	chr11:108765438-108765439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533784453	chr11:108765474-108765475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188266739	chr11:108765498-108765499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
Chronic lymphocytic leukemia	21546498	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
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
Renal cell carcinoma	21668985	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108726200-108768400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr11:108728400-108810600	Weak transcription	Left Ventricle	heart
3	chr11:108757800-108766400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:108757800-108766800	Weak transcription	Stomach Mucosa	stomach
5	chr11:108758400-108766800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:108758600-108764600	Weak transcription	A549	lung
7	chr11:108758600-108766400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:108759400-108766000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr11:108759600-108766400	Weak transcription	Osteobl	bone
10	chr11:108760800-108767800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:108761800-108765000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:108761800-108766000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:108761800-108766400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:108761800-108767000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:108762000-108766000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:108762000-108767800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:108762200-108764400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:108762400-108765800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:108763000-108764600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:108763000-108766000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr11:108763000-108797600	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:108763200-108764800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:108763200-108764800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:108763200-108764800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:108764400-108765400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr11:108764600-108765000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr11:108764600-108765800	Enhancers	A549	lung
28	chr11:108764800-108767600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr11:108764800-108768000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr11:108764800-108768200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr11:108765000-108766000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr11:108765000-108766200	Enhancers	HUVEC	blood vessel
33	chr11:108765000-108768000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr11:108765000-108768400	Enhancers	Hela-S3	cervix
35	chr11:108765400-108766400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:108765600-108768600	Weak transcription	K562	blood
37	chr11:108765800-108766000	Flanking Active TSS	A549	lung
38	chr11:108765800-108768000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:108765800-108768800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:108766000-108766200	Enhancers	A549	lung
41	chr11:108766000-108766400	Enhancers	NHEK	skin
42	chr11:108766000-108766600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:108766000-108766600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr11:108766000-108766800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr11:108766000-108766800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr11:108766000-108767000	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr11:108766000-108768200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:108766000-108768400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:108766200-108766400	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr11:108766200-108766600	Enhancers	Primary hematopoietic stem cells	blood

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