Variant report

Variant	esv275272
Chromosome Location	chr11:93332181-93336949
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	chr11:93331530..93334524-chr11:93337032..93340985,4	K562	blood:
2	chr11:93312040..93314998-chr11:93331808..93333754,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16919071	chr11:93335048-93335049	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570785434	chr11:93335096-93335097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537893846	chr11:93335118-93335119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550445789	chr11:93335189-93335190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568798914	chr11:93335192-93335193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369735155	chr11:93335201-93335202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536041557	chr11:93335225-93335226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562536210	chr11:93335230-93335231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10831070	chr11:93335266-93335267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs566297273	chr11:93335279-93335280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187245592	chr11:93335302-93335303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11820018	chr11:93335339-93335340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs576760714	chr11:93335442-93335443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190477670	chr11:93335492-93335493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182501008	chr11:93335493-93335494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574358058	chr11:93335552-93335553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7928672	chr11:93335556-93335557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs186690236	chr11:93335608-93335609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527494306	chr11:93335617-93335618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141373150	chr11:93335635-93335636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564469998	chr11:93335636-93335637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190657208	chr11:93335649-93335650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549940390	chr11:93335663-93335664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568481241	chr11:93335711-93335712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372846977	chr11:93335766-93335767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs36188500	chr11:93335784-93335785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527695287	chr11:93335803-93335804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370704939	chr11:93335817-93335818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548111034	chr11:93335869-93335870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566234562	chr11:93335872-93335873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4341497	chr11:93335882-93335883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370145615	chr11:93335901-93335902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567753968	chr11:93335933-93335934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537964452	chr11:93335942-93335943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555713564	chr11:93336077-93336078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111395296	chr11:93336097-93336098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4396249	chr11:93336125-93336126	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs112125873	chr11:93336141-93336142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556750153	chr11:93336182-93336183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553692147	chr11:93336183-93336184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572202972	chr11:93336253-93336254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185477303	chr11:93336273-93336274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572066810	chr11:93336278-93336279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377737355	chr11:93336305-93336306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189553086	chr11:93336307-93336308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138870603	chr11:93336325-93336326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182249096	chr11:93336365-93336366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541051427	chr11:93336397-93336398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371134545	chr11:93336423-93336424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114717319	chr11:93336461-93336462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93335000-93335200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:93335000-93335200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr11:93335200-93336600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr11:93335200-93336600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr11:93336600-93337400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr11:93336600-93337400	Enhancers	Spleen	Spleen
7	chr11:93336600-93337400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr11:93336600-93337800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr11:93336600-93337800	Enhancers	Fetal Intestine Small	intestine
10	chr11:93336600-93338000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr11:93336600-93339600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr11:93336800-93337000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:93336800-93337000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:93336800-93337200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr11:93336800-93337200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr11:93336800-93337400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr11:93336800-93337600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr11:93336800-93337800	Enhancers	Duodenum Mucosa	Duodenum
19	chr11:93336800-93337800	Enhancers	Fetal Intestine Large	intestine

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