Variant report

Variant	esv1810341
Chromosome Location	chr11:86282679-86286641
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86169916..86172612-chr11:86280492..86283245,2	MCF-7	breast:
2	chr11:86166825..86167806-chr11:86282278..86283302,7	K562	blood:
3	chr11:86166748..86168316-chr11:86282275..86283346,25	MCF-7	breast:
4	chr11:86170199..86171040-chr11:86282276..86282814,2	MCF-7	breast:
5	chr11:86198272..86199275-chr11:86282316..86283020,3	MCF-7	breast:
6	chr11:86174300..86177021-chr11:86280840..86283667,2	MCF-7	breast:
7	chr11:86168251..86170470-chr11:86280269..86282834,2	MCF-7	breast:
8	chr11:86166851..86167817-chr11:86282247..86283482,8	MCF-7	breast:
9	chr11:86285976..86287836-chr11:86291866..86294445,2	K562	blood:

No data

Extended variants
information (count: 156 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386755806	chr11:86282679-86282680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1945036	chr11:86282680-86282681	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530409612	chr11:86282683-86282684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545663851	chr11:86282684-86282685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184602348	chr11:86282712-86282713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188284696	chr11:86282717-86282718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574319752	chr11:86282719-86282720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571542277	chr11:86282807-86282808	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs536823183	chr11:86282811-86282812	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs143596092	chr11:86282840-86282841	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs76930130	chr11:86282859-86282860	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs539070979	chr11:86282860-86282861	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs577215412	chr11:86282865-86282866	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs11234696	chr11:86282878-86282879	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs548596378	chr11:86282895-86282896	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs114187011	chr11:86282916-86282917	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs7941124	chr11:86282929-86282930	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs115830188	chr11:86282952-86282953	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs562641936	chr11:86282972-86282973	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs371069367	chr11:86282973-86282974	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs531590820	chr11:86282981-86282982	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs551374130	chr11:86282982-86282983	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs182062890	chr11:86282988-86282989	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs4944596	chr11:86283169-86283170	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs547929894	chr11:86283195-86283196	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs115262439	chr11:86283199-86283200	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs536450827	chr11:86283207-86283208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374968472	chr11:86283222-86283223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576551972	chr11:86283239-86283240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138152292	chr11:86283277-86283278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142685800	chr11:86283287-86283288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560819597	chr11:86283295-86283296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79139743	chr11:86283318-86283319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565222173	chr11:86283335-86283336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539807067	chr11:86283361-86283362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576757012	chr11:86283371-86283372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78179146	chr11:86283411-86283412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540972293	chr11:86283414-86283415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559835330	chr11:86283485-86283486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573633012	chr11:86283492-86283493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145929790	chr11:86283500-86283501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186296587	chr11:86283504-86283505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540959994	chr11:86283523-86283524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369001511	chr11:86283530-86283531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75963152	chr11:86283533-86283534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4944597	chr11:86283537-86283538	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs74904585	chr11:86283546-86283547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs80348437	chr11:86283553-86283554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565144935	chr11:86283556-86283557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76478349	chr11:86283568-86283569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86263400-86288200	Weak transcription	Aorta	Aorta
2	chr11:86271000-86285400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:86271000-86285400	Weak transcription	Right Atrium	heart
4	chr11:86271000-86285600	Weak transcription	Right Ventricle	heart
5	chr11:86271000-86291200	Weak transcription	Gastric	stomach
6	chr11:86272400-86285600	Weak transcription	Psoas Muscle	Psoas
7	chr11:86275400-86299400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr11:86276400-86299800	Weak transcription	Fetal Brain Male	brain
9	chr11:86277400-86287400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:86277400-86287600	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:86277400-86289400	Weak transcription	Brain Anterior Caudate	brain
12	chr11:86278600-86283000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:86279000-86285200	Weak transcription	Hela-S3	cervix
14	chr11:86279000-86285600	Weak transcription	Adipose Nuclei	Adipose
15	chr11:86279000-86289000	Weak transcription	NHEK	skin
16	chr11:86279400-86285600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:86279400-86285600	Weak transcription	Fetal Stomach	stomach
18	chr11:86279400-86285600	Weak transcription	Ovary	ovary
19	chr11:86279800-86282800	Weak transcription	Stomach Mucosa	stomach
20	chr11:86279800-86285400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:86279800-86288000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:86280000-86285600	Weak transcription	Pancreas	Pancrea
23	chr11:86280600-86285600	Weak transcription	Left Ventricle	heart
24	chr11:86280800-86282800	Enhancers	A549	lung
25	chr11:86281000-86283600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr11:86281200-86283400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr11:86281400-86289200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:86281800-86283000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:86281800-86285000	Weak transcription	HUVEC	blood vessel
30	chr11:86282000-86283000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr11:86282000-86285600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:86282000-86285800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:86282000-86286000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr11:86282000-86288200	Weak transcription	Colonic Mucosa	Colon
35	chr11:86282000-86288400	Weak transcription	Fetal Intestine Small	intestine
36	chr11:86282200-86283200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:86282200-86285600	Weak transcription	Spleen	Spleen
38	chr11:86282400-86283000	Enhancers	Lung	lung
39	chr11:86282400-86285800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:86282400-86287600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:86282600-86283200	Enhancers	Fetal Intestine Large	intestine
42	chr11:86282800-86283000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:86282800-86283200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr11:86282800-86283200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:86282800-86283200	Flanking Active TSS	A549	lung
46	chr11:86282800-86283400	Enhancers	Stomach Mucosa	stomach
47	chr11:86283000-86283400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:86283000-86283600	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr11:86283000-86285400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:86283000-86285600	Weak transcription	Lung	lung

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