Variant report

Variant	esv3421257
Chromosome Location	chr11:36330787-36331601
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:36328951..36330934-chr11:36522654..36524695,2	K562	blood:
2	chr11:36329173..36331205-chr11:36333341..36336022,2	K562	blood:
3	chr11:36331050..36333326-chr11:36394222..36396312,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553805217	chr11:36330814-36330815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72948124	chr11:36330833-36330834	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532004636	chr11:36330861-36330862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150068093	chr11:36330995-36330996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564873021	chr11:36331006-36331007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs58129781	chr11:36331074-36331075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4466804	chr11:36331077-36331078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527413002	chr11:36331097-36331098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368947069	chr11:36331122-36331123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114939232	chr11:36331160-36331161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113945261	chr11:36331169-36331170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375915939	chr11:36331170-36331171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139362710	chr11:36331172-36331173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369946328	chr11:36331174-36331175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79680856	chr11:36331193-36331194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370631221	chr11:36331205-36331206	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200666673	chr11:36331214-36331215	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376650011	chr11:36331216-36331217	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529850054	chr11:36331228-36331229	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549524199	chr11:36331254-36331255	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111588780	chr11:36331270-36331271	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73443131	chr11:36331274-36331275	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs557757438	chr11:36331281-36331282	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201470541	chr11:36331287-36331288	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571292466	chr11:36331336-36331337	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534164557	chr11:36331353-36331354	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553996938	chr11:36331367-36331368	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574033648	chr11:36331393-36331394	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565471166	chr11:36331445-36331446	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs556789559	chr11:36331449-36331450	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs76678671	chr11:36331456-36331457	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs148847646	chr11:36331469-36331470	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs565542067	chr11:36331472-36331473	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs200356819	chr11:36331475-36331476	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs527308832	chr11:36331488-36331489	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs540972155	chr11:36331490-36331491	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs79237367	chr11:36331500-36331501	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs76783412	chr11:36331513-36331514	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs374646928	chr11:36331515-36331516	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs562964832	chr11:36331523-36331524	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs74829974	chr11:36331537-36331538	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs61878691	chr11:36331541-36331542	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs529786387	chr11:36331580-36331581	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs549611995	chr11:36331588-36331589	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36311400-36331400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:36319200-36331800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:36322800-36331400	Weak transcription	Gastric	stomach
4	chr11:36323000-36331400	Weak transcription	Lung	lung
5	chr11:36323000-36331400	Weak transcription	Pancreas	Pancrea
6	chr11:36323000-36331400	Weak transcription	Spleen	Spleen
7	chr11:36323000-36333800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:36323000-36334000	Weak transcription	Ovary	ovary
9	chr11:36323000-36334200	Weak transcription	Brain Anterior Caudate	brain
10	chr11:36323000-36335200	Weak transcription	Colonic Mucosa	Colon
11	chr11:36323800-36331400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:36324000-36333800	Weak transcription	Brain Angular Gyrus	brain
13	chr11:36326000-36331200	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:36326400-36331600	Weak transcription	HSMMtube	muscle
15	chr11:36326400-36333800	Weak transcription	Fetal Intestine Small	intestine
16	chr11:36327200-36335200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr11:36328600-36330800	Enhancers	Adipose Nuclei	Adipose
18	chr11:36329000-36335200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:36329600-36330800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:36329600-36332200	Enhancers	Hela-S3	cervix
21	chr11:36329800-36331000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:36330000-36335200	Enhancers	HMEC	breast
23	chr11:36330200-36330800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:36330400-36330800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:36330400-36333800	Weak transcription	Osteobl	bone
26	chr11:36330600-36331200	Weak transcription	Brain Substantia Nigra	brain
27	chr11:36330600-36331800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:36330600-36333200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:36330800-36333200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:36330800-36333600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:36330800-36334400	Weak transcription	Adipose Nuclei	Adipose
32	chr11:36331000-36331800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:36331200-36331600	ZNF genes & repeats	Brain Substantia Nigra	brain
34	chr11:36331200-36331800	Strong transcription	Brain Hippocampus Middle	brain
35	chr11:36331400-36331600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:36331400-36331600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:36331400-36331600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
38	chr11:36331400-36331600	Enhancers	Fetal Kidney	kidney
39	chr11:36331400-36331600	Bivalent Enhancer	Left Ventricle	heart
40	chr11:36331400-36331800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:36331400-36331800	Active TSS	Fetal Lung	lung
42	chr11:36331400-36331800	Enhancers	Lung	lung
43	chr11:36331400-36331800	Enhancers	Pancreas	Pancrea
44	chr11:36331400-36331800	Active TSS	Spleen	Spleen
45	chr11:36331400-36332000	ZNF genes & repeats	Gastric	stomach
46	chr11:36331400-36333000	Enhancers	Stomach Mucosa	stomach
47	chr11:36331400-36335200	Enhancers	NH-A	brain
48	chr11:36331400-36335400	Enhancers	HSMM	muscle
49	chr11:36331600-36331800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:36331600-36331800	Genic enhancers	HSMMtube	muscle

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