Variant report

Variant	esv3387234
Chromosome Location	chr11:33608200-33609705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:33593866..33595976-chr11:33607119..33609770,2	K562	blood:
2	chr11:33596599..33600481-chr11:33606542..33609139,3	K562	blood:
3	chr11:33602299..33604468-chr11:33607477..33609270,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111887129	chr11:33608202-33608203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546874009	chr11:33608213-33608214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554611651	chr11:33608219-33608220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556127973	chr11:33608252-33608253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191513797	chr11:33608284-33608285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566864286	chr11:33608310-33608311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529442319	chr11:33608334-33608335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572970218	chr11:33608341-33608342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184782564	chr11:33608354-33608355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574619250	chr11:33608355-33608356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2064434	chr11:33608362-33608363	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs537115190	chr11:33608365-33608366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559969074	chr11:33608410-33608411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533579159	chr11:33608434-33608435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189414508	chr11:33608458-33608459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369363167	chr11:33608493-33608494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193130391	chr11:33608519-33608520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553296164	chr11:33608526-33608527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573222598	chr11:33608549-33608550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542152637	chr11:33608561-33608562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185279834	chr11:33608582-33608583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563828393	chr11:33608635-33608636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575368554	chr11:33608657-33608658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10836078	chr11:33608668-33608669	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs553995160	chr11:33608682-33608683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564457513	chr11:33608698-33608699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549098192	chr11:33608711-33608712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150774799	chr11:33608764-33608765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540276124	chr11:33608824-33608825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139175176	chr11:33608852-33608853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529505226	chr11:33608931-33608932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567369904	chr11:33608973-33608974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149969778	chr11:33609010-33609011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7118332	chr11:33609038-33609039	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs531841737	chr11:33609141-33609142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550637740	chr11:33609181-33609182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145704817	chr11:33609265-33609266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539439257	chr11:33609271-33609272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546576999	chr11:33609282-33609283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190141883	chr11:33609360-33609361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535717295	chr11:33609365-33609366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79297519	chr11:33609382-33609383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181114087	chr11:33609469-33609470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11032305	chr11:33609491-33609492	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs78864526	chr11:33609520-33609521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115902325	chr11:33609552-33609553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140549067	chr11:33609569-33609570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540340820	chr11:33609580-33609581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560082821	chr11:33609596-33609597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117743024	chr11:33609597-33609598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
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
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	22286061	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33555200-33617600	Weak transcription	Fetal Brain Male	brain
2	chr11:33587000-33615400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:33587000-33615600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:33588200-33610600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:33591400-33615400	Weak transcription	A549	lung
6	chr11:33594600-33615600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:33594600-33615600	Weak transcription	Brain Angular Gyrus	brain
8	chr11:33594600-33644000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:33599200-33615400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:33603800-33609800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:33604400-33608400	Strong transcription	Brain Germinal Matrix	brain
12	chr11:33604600-33610200	Strong transcription	Fetal Brain Female	brain
13	chr11:33605800-33642400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:33606000-33619200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:33606200-33609800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:33606200-33610200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:33606200-33614800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:33606200-33615400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:33606400-33613800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:33606600-33609600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:33606600-33642000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:33607800-33608400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:33607800-33615800	Weak transcription	NH-A	brain
24	chr11:33608400-33614600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:33608400-33615800	Weak transcription	Brain Germinal Matrix	brain
26	chr11:33609600-33610600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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