Variant report

Variant	esv3424444
Chromosome Location	chr11:120976942-120981440
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	chr11:120979543..120981996-chr11:121070890..121072492,2	K562	blood:
2	chr11:120975216..120977193-chr11:121456635..121459591,2	K562	blood:

Extended variants
information (count: 183 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373588685	chr11:120976968-120976969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150540933	chr11:120976974-120976975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564845542	chr11:120977032-120977033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536045582	chr11:120977059-120977060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548022931	chr11:120977089-120977090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532172672	chr11:120977106-120977107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7111483	chr11:120977107-120977108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550792412	chr11:120977157-120977158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376916641	chr11:120977162-120977163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529823217	chr11:120977245-120977246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548000425	chr11:120977261-120977262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566438547	chr11:120977266-120977267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139494563	chr11:120977271-120977272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182686428	chr11:120977300-120977301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75115659	chr11:120977354-120977355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538048286	chr11:120977390-120977391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556752538	chr11:120977401-120977402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533571965	chr11:120977408-120977409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574817347	chr11:120977428-120977429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535917300	chr11:120977441-120977442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187014724	chr11:120977442-120977443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144414121	chr11:120977495-120977496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs684384	chr11:120977529-120977530	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs564827871	chr11:120977556-120977557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147823737	chr11:120977559-120977560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544053198	chr11:120977590-120977591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141474342	chr11:120977601-120977602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529861985	chr11:120977626-120977627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548225002	chr11:120977656-120977657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560290397	chr11:120977666-120977667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192221560	chr11:120977715-120977716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576393480	chr11:120977723-120977724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566644952	chr11:120977733-120977734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552246250	chr11:120977763-120977764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370471971	chr11:120977796-120977797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571146283	chr11:120977817-120977818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182839416	chr11:120977823-120977824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116288600	chr11:120977843-120977844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145284134	chr11:120977877-120977878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568606965	chr11:120977890-120977891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs638775	chr11:120977922-120977923	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs553802500	chr11:120977950-120977951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373608647	chr11:120977954-120977955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73599469	chr11:120977977-120977978	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs550951294	chr11:120977987-120977988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539431945	chr11:120978004-120978005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188528212	chr11:120978023-120978024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145062494	chr11:120978065-120978066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73599470	chr11:120978074-120978075	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs562648093	chr11:120978145-120978146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
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
Glioblastoma multiforme	21080181	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Squamous cell cancer	20885788	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Neurocytoma	17123091	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Central neurocytomas	17123091	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Acute myeloid leukemia	19651601	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	20409316	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21385341	CNVD
Multiple myeloma	16461302	CNVD
Burkitt''s lymphoma	18698080	CNVD
Prostate cancer	23792589	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120942800-120979000	Weak transcription	Aorta	Aorta
2	chr11:120958800-120980600	Weak transcription	Brain Germinal Matrix	brain
3	chr11:120971800-120983600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:120974600-120978200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:120975000-120977200	Enhancers	Fetal Lung	lung
6	chr11:120975000-120977200	Enhancers	Fetal Stomach	stomach
7	chr11:120975000-120977200	Enhancers	Ovary	ovary
8	chr11:120975200-120977600	Enhancers	Fetal Muscle Leg	muscle
9	chr11:120975400-120979400	Weak transcription	Spleen	Spleen
10	chr11:120975600-120977200	Enhancers	Fetal Kidney	kidney
11	chr11:120975800-120977200	Enhancers	Colon Smooth Muscle	Colon
12	chr11:120975800-121005600	Weak transcription	Right Ventricle	heart
13	chr11:120976400-120984200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:120976600-120977400	Weak transcription	HSMMtube	muscle
15	chr11:120976600-120980000	Weak transcription	Fetal Brain Male	brain
16	chr11:120976600-120982000	Weak transcription	Lung	lung
17	chr11:120976600-120982200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr11:120976600-120982200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:120976600-120983200	Weak transcription	Brain Substantia Nigra	brain
20	chr11:120976600-120992200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr11:120976600-120998400	Weak transcription	Brain Anterior Caudate	brain
22	chr11:120976800-120980800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:120976800-120983600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:120977200-120979200	Weak transcription	Fetal Lung	lung
25	chr11:120977200-120979200	Weak transcription	Ovary	ovary
26	chr11:120977200-120980400	Weak transcription	Fetal Stomach	stomach
27	chr11:120977400-120977600	Enhancers	HSMM	muscle
28	chr11:120977400-120977600	Enhancers	HSMMtube	muscle
29	chr11:120977600-120980000	Weak transcription	Fetal Muscle Leg	muscle
30	chr11:120977600-120983600	Weak transcription	HSMMtube	muscle
31	chr11:120977800-120978000	Enhancers	Fetal Brain Female	brain
32	chr11:120978000-120980200	Weak transcription	Fetal Brain Female	brain
33	chr11:120978200-120983000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:120979000-120980000	Strong transcription	Aorta	Aorta
35	chr11:120979000-120981200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:120979200-120979400	Enhancers	Ovary	ovary
37	chr11:120979200-120983600	Enhancers	Fetal Lung	lung
38	chr11:120979400-120979600	Enhancers	Spleen	Spleen
39	chr11:120979400-120979800	Weak transcription	Ovary	ovary
40	chr11:120979400-120981400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:120979800-120980600	Enhancers	Ovary	ovary
42	chr11:120980000-120980600	Enhancers	Fetal Muscle Leg	muscle
43	chr11:120980000-120983800	Enhancers	Fetal Brain Male	brain
44	chr11:120980000-120991000	Weak transcription	Aorta	Aorta
45	chr11:120980200-120980600	Enhancers	Fetal Brain Female	brain
46	chr11:120980400-120981200	Enhancers	Fetal Stomach	stomach
47	chr11:120980600-120980800	Enhancers	Brain Germinal Matrix	brain
48	chr11:120980600-120981600	Weak transcription	Fetal Muscle Leg	muscle
49	chr11:120980600-120998400	Weak transcription	Fetal Brain Female	brain
50	chr11:120980800-120981200	Weak transcription	Brain Germinal Matrix	brain

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