Variant report

Variant	esv1807162
Chromosome Location	chr11:93013387-93022144
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	chr1:96384177..96384896-chr11:93016602..93017370,2	MCF-7	breast:
2	chr11:93018701..93021080-chr11:93023667..93026629,2	K562	blood:

Extended variants
information (count: 302 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:302 , 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	rs7943372	chr11:93013387-93013388	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566279749	chr11:93013418-93013419	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs535903416	chr11:93013423-93013424	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs34474550	chr11:93013438-93013439	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs192424711	chr11:93013445-93013446	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs149284666	chr11:93013524-93013525	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs57235767	chr11:93013531-93013532	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs115390454	chr11:93013537-93013538	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs556000433	chr11:93013630-93013631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568119053	chr11:93013645-93013646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560413505	chr11:93013681-93013682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144499621	chr11:93013737-93013738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183429840	chr11:93013742-93013743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546115112	chr11:93013782-93013783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558035441	chr11:93013791-93013792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76883816	chr11:93013824-93013825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543774290	chr11:93013825-93013826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562071349	chr11:93013922-93013923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576744975	chr11:93013924-93013925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs8181494	chr11:93013930-93013931	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs148439427	chr11:93013945-93013946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372698745	chr11:93014001-93014002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369085830	chr11:93014035-93014036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545225103	chr11:93014058-93014059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs5793637	chr11:93014059-93014060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs58652189	chr11:93014071-93014072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187660363	chr11:93014100-93014101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572358936	chr11:93014107-93014108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141680309	chr11:93014127-93014128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567572518	chr11:93014185-93014186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531227438	chr11:93014220-93014221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541442528	chr11:93014233-93014234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190091226	chr11:93014239-93014240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568093697	chr11:93014243-93014244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147147325	chr11:93014298-93014299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79297994	chr11:93014304-93014305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565883334	chr11:93014317-93014318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79365908	chr11:93014319-93014320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1900385	chr11:93014343-93014344	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs576385560	chr11:93014419-93014420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140280862	chr11:93014478-93014479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145677721	chr11:93014519-93014520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373866301	chr11:93014566-93014567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7129356	chr11:93014579-93014580	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs35181062	chr11:93014600-93014601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541519348	chr11:93014604-93014605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559382373	chr11:93014613-93014614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538874586	chr11:93014691-93014692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117280245	chr11:93014715-93014716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147313401	chr11:93014717-93014718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	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
Prostate cancer	18632612	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93011800-93014800	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr11:93012200-93013400	Enhancers	Fetal Stomach	stomach
3	chr11:93012400-93013800	Enhancers	Fetal Kidney	kidney
4	chr11:93012800-93013400	Enhancers	Fetal Heart	heart
5	chr11:93012800-93013600	Flanking Active TSS	GM12878-XiMat	blood
6	chr11:93013600-93014200	Enhancers	GM12878-XiMat	blood
7	chr11:93014200-93016000	Weak transcription	GM12878-XiMat	blood
8	chr11:93014800-93015800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:93016000-93016600	Enhancers	GM12878-XiMat	blood
10	chr11:93016600-93020600	Weak transcription	GM12878-XiMat	blood
11	chr11:93018600-93018800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:93018600-93018800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:93018800-93020600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:93018800-93021400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:93019000-93019600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:93019400-93028600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr11:93020600-93021200	Enhancers	GM12878-XiMat	blood
18	chr11:93020600-93021600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:93021200-93021800	Flanking Active TSS	GM12878-XiMat	blood
20	chr11:93021400-93021600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:93021400-93021600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:93021600-93024400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:93021800-93023400	Enhancers	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links