Variant report

Variant	esv3395329
Chromosome Location	chr11:120744742-120749140
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120734140..120737057-chr11:120742079..120744802,3	K562	blood:
2	chr11:120743310..120746214-chr11:120774459..120776517,2	MCF-7	breast:
3	chr11:120748502..120750691-chr11:120774728..120776909,2	MCF-7	breast:

Extended variants
information (count: 211 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:211 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140062412	chr11:120744751-120744752	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376835325	chr11:120744752-120744753	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552051911	chr11:120744754-120744755	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370203533	chr11:120744762-120744763	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570219186	chr11:120744782-120744783	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373447952	chr11:120744783-120744784	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149282180	chr11:120744810-120744811	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs530974037	chr11:120744822-120744823	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs144440903	chr11:120744842-120744843	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs368653765	chr11:120744852-120744853	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs148410637	chr11:120744853-120744854	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs111523175	chr11:120744855-120744856	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs199752302	chr11:120744856-120744857	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs144912666	chr11:120744873-120744874	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs376311702	chr11:120744874-120744875	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs147527974	chr11:120744879-120744880	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs140216112	chr11:120744881-120744882	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs117994876	chr11:120744897-120744898	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs374703700	chr11:120744903-120744904	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs547150816	chr11:120744919-120744920	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs368838031	chr11:120744922-120744923	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs151091579	chr11:120744923-120744924	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs367856478	chr11:120744960-120744961	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs532572150	chr11:120744964-120744965	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs369662514	chr11:120744997-120744998	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs551666732	chr11:120745008-120745009	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs572042258	chr11:120745024-120745025	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs569942230	chr11:120745034-120745035	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs536798500	chr11:120745078-120745079	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs78759486	chr11:120745094-120745095	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs112561555	chr11:120745135-120745136	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs545524917	chr11:120745146-120745147	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs372737084	chr11:120745149-120745150	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs553471711	chr11:120745168-120745169	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs572342901	chr11:120745209-120745210	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs116548941	chr11:120745237-120745238	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs534395695	chr11:120745246-120745247	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs539342269	chr11:120745263-120745264	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs373811444	chr11:120745276-120745277	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs376070637	chr11:120745366-120745367	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs76339983	chr11:120745368-120745369	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs150887829	chr11:120745370-120745371	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs73584405	chr11:120745380-120745381	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs183496637	chr11:120745382-120745383	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs542992165	chr11:120745386-120745387	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs111640941	chr11:120745421-120745422	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561517505	chr11:120745427-120745428	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558713549	chr11:120745439-120745440	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528726516	chr11:120745510-120745511	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73584407	chr11:120745511-120745512	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:96)

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

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120704400-120746000	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:120704400-120748800	Weak transcription	Brain Substantia Nigra	brain
3	chr11:120714400-120746600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:120715400-120745000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:120729200-120751200	Weak transcription	Ovary	ovary
6	chr11:120730000-120746600	Weak transcription	Fetal Lung	lung
7	chr11:120730800-120745200	Weak transcription	Brain Angular Gyrus	brain
8	chr11:120738600-120746800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:120738600-120747400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:120738600-120755600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:120739000-120749200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:120739200-120746000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:120739200-120755600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:120740200-120748200	Weak transcription	Brain Germinal Matrix	brain
15	chr11:120740200-120752400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:120740400-120752600	Weak transcription	Fetal Brain Male	brain
17	chr11:120740600-120746000	Weak transcription	Spleen	Spleen
18	chr11:120741400-120745200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:120742600-120746800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:120743200-120747600	Strong transcription	Brain Anterior Caudate	brain
21	chr11:120744000-120746800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:120744400-120744800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:120744400-120746400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:120744800-120745000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:120744800-120745400	Bivalent Enhancer	HepG2	liver
26	chr11:120745000-120747400	Strong transcription	Brain Cingulate Gyrus	brain
27	chr11:120745000-120752400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:120745000-120754200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr11:120745200-120747200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:120745200-120747200	Strong transcription	Brain Angular Gyrus	brain
31	chr11:120746000-120746200	Enhancers	Spleen	Spleen
32	chr11:120746000-120746800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:120746000-120747600	Strong transcription	Brain Hippocampus Middle	brain
34	chr11:120746200-120754600	Weak transcription	Spleen	Spleen
35	chr11:120746400-120748600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:120746600-120747200	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr11:120746600-120748400	Strong transcription	Fetal Lung	lung
38	chr11:120746800-120747200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:120746800-120747200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
40	chr11:120746800-120747200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:120746800-120747200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:120747000-120747200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:120747200-120750800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:120747200-120752200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:120747200-120752600	Weak transcription	Brain Angular Gyrus	brain
46	chr11:120747200-120753600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:120747200-120753800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:120747200-120754000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:120747200-120754400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr11:120747200-120754600	Weak transcription	Brain Inferior Temporal Lobe	brain

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