Variant report

Variant	esv2461915
Chromosome Location	chr11:16236320-16237718
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	chr11:16235541..16237281-chr11:16252412..16254092,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569148815	chr11:16236321-16236322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568266407	chr11:16236348-16236349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142343142	chr11:16236367-16236368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536699818	chr11:16236382-16236383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369905226	chr11:16236391-16236392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146885230	chr11:16236429-16236430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187120037	chr11:16236493-16236494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35547484	chr11:16236503-16236504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557771378	chr11:16236506-16236507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576287030	chr11:16236511-16236512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11023873	chr11:16236520-16236521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs11023874	chr11:16236541-16236542	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs143364020	chr11:16236548-16236549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529060346	chr11:16236559-16236560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541216191	chr11:16236560-16236561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577050112	chr11:16236562-16236563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61150801	chr11:16236574-16236575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs533237493	chr11:16236585-16236586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148148983	chr11:16236596-16236597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374597727	chr11:16236599-16236600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570484380	chr11:16236648-16236649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6486280	chr11:16236658-16236659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs538131767	chr11:16236705-16236706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541032899	chr11:16236708-16236709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560830136	chr11:16236755-16236756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568206930	chr11:16236772-16236773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535623099	chr11:16236773-16236774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554321535	chr11:16236844-16236845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191978877	chr11:16236855-16236856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540094637	chr11:16236903-16236904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141184566	chr11:16236908-16236909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529631701	chr11:16236923-16236924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543316488	chr11:16236946-16236947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556856427	chr11:16237020-16237021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576062538	chr11:16237041-16237042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537055480	chr11:16237043-16237044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1519123	chr11:16237054-16237055	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs1519124	chr11:16237087-16237088	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs540800796	chr11:16237094-16237095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35540641	chr11:16237132-16237133	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs6486281	chr11:16237138-16237139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571695162	chr11:16237246-16237247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150751261	chr11:16237273-16237274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540359333	chr11:16237275-16237276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76443705	chr11:16237289-16237290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530753592	chr11:16237332-16237333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139046308	chr11:16237385-16237386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565058090	chr11:16237416-16237417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10766302	chr11:16237468-16237469	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs529372662	chr11:16237476-16237477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16224400-16247200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr11:16226000-16238400	Weak transcription	Psoas Muscle	Psoas
3	chr11:16231800-16237000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:16231800-16240400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:16235000-16237000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:16237000-16239600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:16237000-16239800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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