Variant report

Variant	esv16145
Chromosome Location	chr11:108256476-108267672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:108257377..108260799-chr11:108261065..108264085,3	K562	blood:
2	chr11:108258568..108260799-chr11:108261985..108264085,2	K562	blood:
3	chr11:108258568..108260799-chr11:108261985..108264085,2	K562	blood:
4	chr11:108257377..108260799-chr11:108261065..108264085,3	K562	blood:
5	chr11:108266493..108268409-chr11:108272431..108274588,3	K562	blood:

Extended variants
information (count: 332 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:332 , 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	rs563388101	chr11:108256497-108256498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575199352	chr11:108256584-108256585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545740632	chr11:108256589-108256590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375584949	chr11:108256598-108256599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148081778	chr11:108256606-108256607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180746518	chr11:108256608-108256609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376609601	chr11:108256621-108256622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116293325	chr11:108256622-108256623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371791861	chr11:108256646-108256647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369410173	chr11:108256660-108256661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138596748	chr11:108256661-108256662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141492887	chr11:108256684-108256685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141858047	chr11:108256706-108256707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199935999	chr11:108256710-108256711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200638990	chr11:108256713-108256714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201521908	chr11:108256715-108256716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376156234	chr11:108256716-108256717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150619156	chr11:108256718-108256719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185407071	chr11:108256738-108256739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371521020	chr11:108256739-108256740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534946253	chr11:108256805-108256806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553289855	chr11:108256823-108256824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574727557	chr11:108256826-108256827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113995	chr11:108256837-108256838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs534942936	chr11:108256851-108256852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs597788	chr11:108256859-108256860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs533558757	chr11:108256961-108256962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7949145	chr11:108257015-108257016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs545499966	chr11:108257162-108257163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564134418	chr11:108257182-108257183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs118173768	chr11:108257183-108257184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540562719	chr11:108257207-108257208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140789095	chr11:108257212-108257213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528920055	chr11:108257231-108257232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529448115	chr11:108257261-108257262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548719772	chr11:108257265-108257266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77844834	chr11:108257316-108257317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143115174	chr11:108257448-108257449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs80207833	chr11:108257469-108257470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551563198	chr11:108257497-108257498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147190028	chr11:108257518-108257519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534174564	chr11:108257539-108257540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546962815	chr11:108257542-108257543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568316925	chr11:108257574-108257575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140554256	chr11:108257584-108257585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557086484	chr11:108257609-108257610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190076864	chr11:108257636-108257637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149739571	chr11:108257685-108257686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568807977	chr11:108257703-108257704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537159180	chr11:108257714-108257715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Depressive disorder	21152026	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108226600-108257400	Weak transcription	Right Ventricle	heart
2	chr11:108239600-108260800	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:108262600-108262800	Weak transcription	Left Ventricle	heart
4	chr11:108262800-108263000	Enhancers	Left Ventricle	heart
5	chr11:108263000-108265000	Weak transcription	Left Ventricle	heart
6	chr11:108263200-108264400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:108265400-108266000	Enhancers	K562	blood
8	chr11:108265600-108265800	Enhancers	Gastric	stomach
9	chr11:108265800-108271600	Weak transcription	Gastric	stomach
10	chr11:108266000-108271200	Weak transcription	K562	blood

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