Variant report

Variant	esv33953
Chromosome Location	chr11:104709950-104737532
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	chr11:104715402..104717976-chr11:104720645..104722717,2	K562	blood:
2	chr11:104715402..104717976-chr11:104720645..104722717,2	K562	blood:

Extended variants
information (count: 751 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:751 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184044843	chr11:104709963-104709964	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs35513500	chr11:104709964-104709965	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs537930068	chr11:104710008-104710009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186844880	chr11:104710084-104710085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139897349	chr11:104710197-104710198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114143653	chr11:104710227-104710228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142763782	chr11:104710228-104710229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558366546	chr11:104710237-104710238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114707761	chr11:104710238-104710239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578105105	chr11:104710241-104710242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs151119544	chr11:104710286-104710287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529516545	chr11:104710297-104710298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554122135	chr11:104710300-104710301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192778377	chr11:104710360-104710361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559683608	chr11:104710398-104710399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528635449	chr11:104710427-104710428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573588620	chr11:104710434-104710435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571629928	chr11:104710435-104710436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530782828	chr11:104710450-104710451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139940515	chr11:104710467-104710468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145004074	chr11:104710537-104710538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372100187	chr11:104710539-104710540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201871385	chr11:104710540-104710541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs80311990	chr11:104710676-104710677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116692302	chr11:104710692-104710693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536131871	chr11:104710705-104710706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184215857	chr11:104710748-104710749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571595377	chr11:104710760-104710761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566525934	chr11:104710793-104710794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538761112	chr11:104710824-104710825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74553731	chr11:104710837-104710838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149837904	chr11:104710852-104710853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190821674	chr11:104710890-104710891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182059977	chr11:104710891-104710892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565135720	chr11:104710920-104710921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544182027	chr11:104710926-104710927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557699532	chr11:104710938-104710939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185316452	chr11:104710940-104710941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373923011	chr11:104710962-104710963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563547084	chr11:104710979-104710980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543343064	chr11:104710988-104710989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547679892	chr11:104710996-104710997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567415231	chr11:104711012-104711013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559928761	chr11:104711030-104711031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146844721	chr11:104711053-104711054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529273796	chr11:104711104-104711105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188750554	chr11:104711188-104711189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77122927	chr11:104711204-104711205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548997276	chr11:104711227-104711228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567318153	chr11:104711270-104711271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	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
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	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
low-grade B-cell lymphoma tumor	18367492	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
Melanoma	17363583	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
Obesity	19966786	CNVD
Tetralogy of Fallot	22912587	CNVD
Prostate cancer	18632612	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104708800-104710000	Enhancers	Primary B cells from peripheral blood	blood
2	chr11:104708800-104710000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr11:104710000-104711600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr11:104710200-104714000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:104711400-104714400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:104711600-104712000	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr11:104711800-104712200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:104711800-104712400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr11:104711800-104715000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr11:104712000-104712200	Enhancers	Brain Substantia Nigra	brain
11	chr11:104712000-104712400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr11:104712000-104713000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr11:104712200-104712600	Enhancers	Brain Angular Gyrus	brain
14	chr11:104712200-104713200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:104712400-104713000	Weak transcription	Brain Substantia Nigra	brain
16	chr11:104712600-104712800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:104712600-104713000	Weak transcription	Brain Angular Gyrus	brain
18	chr11:104713000-104713200	Enhancers	Brain Angular Gyrus	brain
19	chr11:104713000-104713200	Enhancers	Brain Anterior Caudate	brain
20	chr11:104713000-104713200	Enhancers	Brain Substantia Nigra	brain
21	chr11:104713000-104714600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr11:104713200-104713400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:104713200-104714000	Weak transcription	Brain Angular Gyrus	brain
24	chr11:104713200-104716800	Weak transcription	Brain Substantia Nigra	brain
25	chr11:104713800-104714000	Enhancers	Brain Anterior Caudate	brain
26	chr11:104714000-104714200	Enhancers	Brain Angular Gyrus	brain
27	chr11:104714000-104714600	Enhancers	Primary B cells from cord blood	blood
28	chr11:104714000-104714800	Enhancers	Primary B cells from peripheral blood	blood
29	chr11:104714200-104714400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr11:104714400-104715400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:104714600-104715000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr11:104715000-104715600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr11:104715400-104715600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:104715600-104716400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr11:104715600-104730000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:104716600-104716800	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr11:104716800-104717400	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr11:104717000-104717600	Enhancers	Brain Substantia Nigra	brain
39	chr11:104723400-104724200	Enhancers	NHDF-Ad	bronchial
40	chr11:104726400-104726600	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr11:104727000-104728400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr11:104727200-104728000	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr11:104727200-104728800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr11:104727400-104727800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:104727400-104728000	Enhancers	NHEK	skin
46	chr11:104727400-104728600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr11:104727400-104728600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr11:104727600-104727800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:104727600-104728200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr11:104727600-104728600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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