Variant report

Variant	esv3424209
Chromosome Location	chr11:75974329-75977077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75972394..75975476-chr11:75975785..75977497,3	K562	blood:
2	chr11:75945746..75948974-chr11:75971381..75974996,3	MCF-7	breast:
3	chr11:75960530..75963251-chr11:75974186..75976431,2	K562	blood:
4	chr11:75972540..75975246-chr11:75987093..75989847,2	K562	blood:
5	chr11:75972394..75975476-chr11:75975785..75977497,3	K562	blood:

Extended variants
information (count: 111 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569280739	chr11:75974393-75974394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537891701	chr11:75974394-75974395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554942105	chr11:75974395-75974396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549098967	chr11:75974454-75974455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs66701635	chr11:75974516-75974517	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs187116215	chr11:75974561-75974562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs17134731	chr11:75974601-75974602	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs572672880	chr11:75974647-75974648	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs557205877	chr11:75974660-75974661	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs544706466	chr11:75974661-75974662	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs370664257	chr11:75974664-75974665	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs146404815	chr11:75974683-75974684	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs530513176	chr11:75974691-75974692	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs143975459	chr11:75974726-75974727	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs585200	chr11:75974761-75974762	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs530364572	chr11:75974762-75974763	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs547241405	chr11:75974780-75974781	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs567093146	chr11:75974795-75974796	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs532708684	chr11:75974819-75974820	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562031208	chr11:75974831-75974832	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191269855	chr11:75974917-75974918	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368448416	chr11:75974953-75974954	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569419162	chr11:75974981-75974982	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76176349	chr11:75974984-75974985	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550736685	chr11:75975026-75975027	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs554700006	chr11:75975171-75975172	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs11236667	chr11:75975187-75975188	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs533222584	chr11:75975189-75975190	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs200821962	chr11:75975197-75975198	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs112681506	chr11:75975207-75975208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71036084	chr11:75975210-75975211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552799996	chr11:75975215-75975216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139495688	chr11:75975223-75975224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12292199	chr11:75975235-75975236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374366710	chr11:75975239-75975240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368298931	chr11:75975243-75975244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566890885	chr11:75975247-75975248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534181928	chr11:75975251-75975252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558328087	chr11:75975256-75975257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575272152	chr11:75975265-75975266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544281995	chr11:75975274-75975275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189219191	chr11:75975290-75975291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149693617	chr11:75975291-75975292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs592968	chr11:75975312-75975313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs372953446	chr11:75975320-75975321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200516453	chr11:75975321-75975322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535763427	chr11:75975328-75975329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375514448	chr11:75975396-75975397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11236669	chr11:75975465-75975466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532849893	chr11:75975486-75975487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	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
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	18172304	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21240255	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75962600-75983600	Weak transcription	Spleen	Spleen
2	chr11:75963200-75976000	Weak transcription	Right Atrium	heart
3	chr11:75973600-75975200	Enhancers	Brain Substantia Nigra	brain
4	chr11:75973800-75975200	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr11:75974000-75975200	Enhancers	Brain Angular Gyrus	brain
6	chr11:75974000-75975200	Enhancers	Brain Cingulate Gyrus	brain
7	chr11:75974000-75975200	Enhancers	Brain Hippocampus Middle	brain
8	chr11:75974400-75975000	Enhancers	Lung	lung
9	chr11:75974600-75974800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:75974600-75975200	Enhancers	Hela-S3	cervix
11	chr11:75974600-75975200	Bivalent Enhancer	Osteobl	bone
12	chr11:75974800-75975000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:75974800-75975000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:75974800-75975200	Enhancers	Fetal Muscle Leg	muscle
15	chr11:75975000-75975200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:75975000-75976800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:75975000-75979600	Weak transcription	Lung	lung
18	chr11:75975200-75975600	Weak transcription	Fetal Muscle Leg	muscle
19	chr11:75975200-75975600	Weak transcription	Hela-S3	cervix
20	chr11:75975200-75977200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:75975600-75976200	Enhancers	Hela-S3	cervix
22	chr11:75975600-75979200	Enhancers	Fetal Muscle Leg	muscle
23	chr11:75975800-75978400	Enhancers	Placenta	Placenta
24	chr11:75976000-75976400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:75976000-75976400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr11:75976000-75978200	Enhancers	Right Atrium	heart
27	chr11:75976000-75982600	Enhancers	Adipose Nuclei	Adipose
28	chr11:75976200-75976400	Bivalent Enhancer	Fetal Stomach	stomach
29	chr11:75976200-75976600	Flanking Active TSS	HSMMtube	muscle
30	chr11:75976200-75976800	Enhancers	Stomach Smooth Muscle	stomach
31	chr11:75976200-75977200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:75976200-75977800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr11:75976200-75978200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr11:75976200-75978600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr11:75976200-75978600	Flanking Active TSS	Hela-S3	cervix
36	chr11:75976200-75979000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr11:75976200-75979600	Enhancers	Fetal Lung	lung
38	chr11:75976400-75976600	Enhancers	Fetal Muscle Trunk	muscle
39	chr11:75976400-75976800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:75976400-75978200	Enhancers	HMEC	breast
41	chr11:75976400-75978800	Enhancers	Fetal Stomach	stomach
42	chr11:75976600-75977200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
43	chr11:75976600-75978200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:75976600-75978200	Enhancers	HSMMtube	muscle
45	chr11:75976600-75978200	Enhancers	NHEK	skin
46	chr11:75976600-75978400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:75976600-75978400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:75976600-75979200	Enhancers	Osteobl	bone
49	chr11:75976800-75977000	Enhancers	Fetal Muscle Trunk	muscle
50	chr11:75976800-75977600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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