Variant report

Variant	esv3355178
Chromosome Location	chr11:33396401-33399249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:33396319..33398155-chr11:33401081..33403706,2	MCF-7	breast:
2	chr11:33392077..33394205-chr11:33397342..33400084,3	K562	blood:
3	chr11:33399022..33400859-chr11:33402110..33404984,2	K562	blood:
4	chr11:33380757..33382861-chr11:33395684..33398398,2	MCF-7	breast:
5	chr11:33391648..33394205-chr11:33396367..33400084,3	K562	blood:
6	chr11:33384382..33386417-chr11:33393888..33396516,2	K562	blood:
7	chr11:33395838..33399105-chr11:33400150..33402846,3	MCF-7	breast:

Extended variants
information (count: 68 )
Associated
traits (count: 78 )

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	rs566787796	chr11:33396427-33396428	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs186740117	chr11:33396486-33396487	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs529040150	chr11:33396487-33396488	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs548806559	chr11:33396507-33396508	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs374845195	chr11:33396509-33396510	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs551506076	chr11:33396629-33396630	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs35696561	chr11:33396648-33396649	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs77689254	chr11:33396667-33396668	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs113239667	chr11:33396675-33396676	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs538427390	chr11:33396695-33396696	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs571569419	chr11:33396739-33396740	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs534224077	chr11:33396751-33396752	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs370136904	chr11:33396816-33396817	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554152823	chr11:33396834-33396835	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190704013	chr11:33396844-33396845	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568706194	chr11:33396850-33396851	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556797889	chr11:33396896-33396897	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575369716	chr11:33396936-33396937	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544339446	chr11:33396958-33396959	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564081363	chr11:33397042-33397043	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77451686	chr11:33397072-33397073	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535758576	chr11:33397092-33397093	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540259326	chr11:33397098-33397099	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114209411	chr11:33397106-33397107	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2761205	chr11:33397112-33397113	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376604354	chr11:33397152-33397153	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548724399	chr11:33397167-33397168	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs80137694	chr11:33397172-33397173	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545838546	chr11:33397173-33397174	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531660820	chr11:33397223-33397224	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551608115	chr11:33397272-33397273	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571744303	chr11:33397273-33397274	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533929196	chr11:33397321-33397322	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146500004	chr11:33397338-33397339	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369139433	chr11:33397347-33397348	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554182439	chr11:33397465-33397466	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567908599	chr11:33397475-33397476	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536954613	chr11:33397482-33397483	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556760881	chr11:33397510-33397511	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576731206	chr11:33397557-33397558	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545644336	chr11:33397580-33397581	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552754439	chr11:33397604-33397605	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113034906	chr11:33397643-33397644	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577710271	chr11:33397814-33397815	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369501031	chr11:33397840-33397841	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7110850	chr11:33397929-33397930	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2761206	chr11:33397969-33397970	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs111605807	chr11:33398003-33398004	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111629132	chr11:33398046-33398047	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573561185	chr11:33398246-33398247	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33380600-33397000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:33392400-33397000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:33393000-33397000	Weak transcription	Pancreas	Pancrea
4	chr11:33394400-33396800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:33394600-33396800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:33394600-33396800	Weak transcription	A549	lung
7	chr11:33394600-33396800	Weak transcription	NHEK	skin
8	chr11:33394600-33396800	Weak transcription	NHLF	lung
9	chr11:33394600-33397000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:33394600-33397000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr11:33394600-33397000	Weak transcription	HSMM	muscle
12	chr11:33394600-33397000	Weak transcription	NHDF-Ad	bronchial
13	chr11:33394600-33397000	Weak transcription	Osteobl	bone
14	chr11:33395400-33396600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:33395400-33396800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:33395400-33396800	Weak transcription	HMEC	breast
17	chr11:33395600-33396800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:33395600-33396800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:33395800-33396800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:33395800-33396800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:33395800-33396800	Weak transcription	HUVEC	blood vessel
22	chr11:33395800-33396800	Weak transcription	NH-A	brain
23	chr11:33396200-33396600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:33396200-33396800	Weak transcription	GM12878-XiMat	blood
25	chr11:33396400-33396600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
26	chr11:33396400-33397000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
27	chr11:33396400-33397000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:33396600-33396800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:33396600-33397000	Enhancers	Fetal Brain Female	brain
30	chr11:33396600-33397200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:33396800-33397000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
32	chr11:33396800-33397000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:33396800-33397000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
34	chr11:33396800-33397000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr11:33396800-33397000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:33396800-33397000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:33396800-33397000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:33396800-33397000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:33396800-33397000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:33396800-33397000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:33396800-33397000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
42	chr11:33396800-33397000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr11:33396800-33397000	Enhancers	A549	lung
44	chr11:33396800-33397000	Enhancers	GM12878-XiMat	blood
45	chr11:33396800-33397000	Enhancers	HUVEC	blood vessel
46	chr11:33396800-33397000	Enhancers	NH-A	brain
47	chr11:33396800-33397000	Enhancers	NHLF	lung
48	chr11:33396800-33397200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:33396800-33397200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:33396800-33397200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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