Variant report

Variant	esv3422296
Chromosome Location	chr11:34707201-34709749
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	chr11:34666390..34669350-chr11:34705464..34707840,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189393922	chr11:34707224-34707225	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs550352443	chr11:34707240-34707241	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs556446470	chr11:34707252-34707253	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs551124914	chr11:34707258-34707259	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs73446857	chr11:34707272-34707273	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs139321332	chr11:34707292-34707293	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs145810746	chr11:34707323-34707324	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs35986920	chr11:34707326-34707327	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs3930835	chr11:34707327-34707328	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs532831101	chr11:34707354-34707355	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs370176842	chr11:34707381-34707382	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs552336788	chr11:34707439-34707440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566045846	chr11:34707457-34707458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370228350	chr11:34707459-34707460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534843735	chr11:34707478-34707479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548680135	chr11:34707497-34707498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569728658	chr11:34707503-34707504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568189274	chr11:34707535-34707536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2123652	chr11:34707542-34707543	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs192936541	chr11:34707562-34707563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574743539	chr11:34707564-34707565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555897568	chr11:34707577-34707578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143121823	chr11:34707578-34707579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542112831	chr11:34707579-34707580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538918054	chr11:34707580-34707581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117910079	chr11:34707582-34707583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184322899	chr11:34707607-34707608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371376918	chr11:34707613-34707614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540634315	chr11:34707614-34707615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554725439	chr11:34707650-34707651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35279876	chr11:34707684-34707685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543418425	chr11:34707687-34707688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574546144	chr11:34707716-34707717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544071075	chr11:34707727-34707728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189644556	chr11:34707792-34707793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374794751	chr11:34707798-34707799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371373964	chr11:34707817-34707818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148256523	chr11:34707822-34707823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141336928	chr11:34707840-34707841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559765486	chr11:34707854-34707855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368319301	chr11:34707880-34707881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554020319	chr11:34707889-34707890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1453387	chr11:34707898-34707899	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs568223132	chr11:34707899-34707900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113004634	chr11:34707917-34707918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs619594	chr11:34707941-34707942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181812600	chr11:34707981-34707982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569808512	chr11:34708176-34708177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538589089	chr11:34708188-34708189	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34701800-34708200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:34702400-34708200	Enhancers	HMEC	breast
3	chr11:34703600-34707600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:34705000-34707600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr11:34706400-34708000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:34706400-34708000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:34706400-34708200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:34706600-34707400	Flanking Active TSS	NHEK	skin
9	chr11:34706600-34707800	Enhancers	NH-A	brain
10	chr11:34706600-34708000	Enhancers	NHDF-Ad	bronchial
11	chr11:34706800-34707800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr11:34707200-34707400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr11:34707200-34707800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr11:34707200-34708200	Enhancers	A549	lung
15	chr11:34707200-34708200	Enhancers	Hela-S3	cervix
16	chr11:34707400-34708200	Enhancers	NHEK	skin
17	chr11:34707600-34707800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr11:34707600-34707800	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr11:34707600-34708000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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