Variant report

Variant	esv33621
Chromosome Location	chr11:102488155-102489121
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139557515	chr11:102488188-102488189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374259251	chr11:102488210-102488211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538145807	chr11:102488244-102488245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376097868	chr11:102488256-102488257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200927711	chr11:102488278-102488279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192295170	chr11:102488282-102488283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2408409	chr11:102488315-102488316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17099106	chr11:102488409-102488410	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs17099108	chr11:102488443-102488444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567531236	chr11:102488458-102488459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17099110	chr11:102488467-102488468	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs576852962	chr11:102488491-102488492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570843724	chr11:102488522-102488523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562539547	chr11:102488539-102488540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17099113	chr11:102488548-102488549	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs571482871	chr11:102488549-102488550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561934879	chr11:102488563-102488564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184083355	chr11:102488593-102488594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17099119	chr11:102488674-102488675	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs565645280	chr11:102488677-102488678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566999332	chr11:102488680-102488681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188864556	chr11:102488761-102488762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552775603	chr11:102488836-102488837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180849435	chr11:102488849-102488850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17099122	chr11:102488930-102488931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554866774	chr11:102489036-102489037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566368213	chr11:102489051-102489052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568383143	chr11:102489098-102489099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533579978	chr11:102489109-102489110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Melanoma	22183965	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16912164	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102484200-102488600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:102484200-102491200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:102484400-102488400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:102485600-102490800	Weak transcription	Fetal Intestine Large	intestine
5	chr11:102485600-102492800	Weak transcription	Fetal Intestine Small	intestine
6	chr11:102486200-102488600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:102486400-102488200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:102486400-102488400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:102486400-102488600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:102486600-102488200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:102486600-102488200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:102486600-102491600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:102486800-102488200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:102486800-102488200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:102487000-102488600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:102487000-102489200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:102487000-102491200	Weak transcription	HUVEC	blood vessel
18	chr11:102487000-102494800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:102487000-102497000	Weak transcription	HSMMtube	muscle
20	chr11:102487200-102491400	Weak transcription	A549	lung
21	chr11:102487800-102491600	Weak transcription	HepG2	liver
22	chr11:102488200-102488400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr11:102488200-102488600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr11:102488200-102488600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:102488200-102488600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr11:102488200-102488800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr11:102488200-102488800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:102488400-102488600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr11:102488400-102488800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:102488400-102488800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:102488600-102488800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:102488800-102491800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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