Variant report

Variant	esv2516959
Chromosome Location	chr11:77518757-77520292
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:77517980..77520549-chr11:77523532..77525489,2	K562	blood:
2	chr11:77520152..77525474-chr11:77528362..77532820,9	MCF-7	breast:
3	chr11:77519457..77522143-chr11:77529403..77531820,3	K562	blood:

Variant related genes	Relation type
ENSG00000219529	chromatin interactions
ENSG00000087884	chromatin interactions
ENSG00000048649	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184697594	chr11:77518765-77518766	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs549258319	chr11:77518785-77518786	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs66895426	chr11:77518810-77518811	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs28653530	chr11:77518833-77518834	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549932645	chr11:77518906-77518907	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs543252921	chr11:77518939-77518940	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs111629170	chr11:77519006-77519007	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531648759	chr11:77519009-77519010	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs541943031	chr11:77519014-77519015	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs562080706	chr11:77519057-77519058	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs11821643	chr11:77519077-77519078	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs548049708	chr11:77519104-77519105	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571106361	chr11:77519130-77519131	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs533560474	chr11:77519166-77519167	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs550348436	chr11:77519172-77519173	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs538700286	chr11:77519176-77519177	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs188972989	chr11:77519198-77519199	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs141337302	chr11:77519252-77519253	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs181418416	chr11:77519350-77519351	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs565648097	chr11:77519375-77519376	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs545478462	chr11:77519380-77519381	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs113277352	chr11:77519399-77519400	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs113541926	chr11:77519400-77519401	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs370255743	chr11:77519401-77519402	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs372871031	chr11:77519402-77519403	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs374619393	chr11:77519403-77519404	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs370905037	chr11:77519409-77519410	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs72521569	chr11:77519410-77519411	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201307682	chr11:77519412-77519413	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs371135945	chr11:77519414-77519415	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs116511532	chr11:77519459-77519460	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs577819483	chr11:77519502-77519503	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs146072725	chr11:77519509-77519510	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs35774637	chr11:77519515-77519516	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs554887190	chr11:77519646-77519647	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs368077736	chr11:77519648-77519649	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs576316931	chr11:77519707-77519708	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs11237301	chr11:77519743-77519744	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs370964988	chr11:77519817-77519818	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs564320469	chr11:77519824-77519825	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs537279519	chr11:77519856-77519857	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs541906419	chr11:77519859-77519860	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs562071252	chr11:77519871-77519872	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs572403751	chr11:77519874-77519875	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs541109737	chr11:77519875-77519876	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs377125252	chr11:77519878-77519879	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs11237302	chr11:77519913-77519914	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs186454009	chr11:77519954-77519955	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs559084018	chr11:77519967-77519968	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs533637572	chr11:77520026-77520027	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Glioblastoma multiforme	21138945	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
Acute lymphoblastic leukemia	21339820	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	20932292	CNVD
Cancer	20164920	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17142309	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21240255	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77463800-77527000	Weak transcription	Aorta	Aorta
2	chr11:77475200-77527800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:77475400-77522000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:77475400-77529000	Weak transcription	NHLF	lung
5	chr11:77475400-77530000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:77475800-77522000	Weak transcription	Hela-S3	cervix
7	chr11:77482800-77525800	Weak transcription	Fetal Lung	lung
8	chr11:77487400-77522000	Weak transcription	Placenta	Placenta
9	chr11:77495800-77528200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:77496000-77530200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:77499000-77525600	Weak transcription	HMEC	breast
12	chr11:77501200-77525800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:77501400-77521600	Weak transcription	Fetal Kidney	kidney
14	chr11:77501400-77526800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:77503400-77525800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:77503600-77525000	Weak transcription	Ovary	ovary
17	chr11:77503600-77529600	Weak transcription	Right Ventricle	heart
18	chr11:77503800-77521200	Weak transcription	Fetal Thymus	thymus
19	chr11:77503800-77525800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:77504000-77521800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:77504000-77524400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr11:77504800-77524600	Weak transcription	Fetal Intestine Large	intestine
23	chr11:77504800-77525200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:77505000-77522200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:77505000-77524000	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:77505000-77528400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:77505200-77521600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:77505200-77524200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:77505400-77525800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr11:77505600-77520000	Weak transcription	Primary T cells from cord blood	blood
31	chr11:77505600-77521400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:77506800-77528200	Weak transcription	Brain Hippocampus Middle	brain
33	chr11:77508000-77527800	Weak transcription	Colon Smooth Muscle	Colon
34	chr11:77509400-77528800	Weak transcription	Brain Germinal Matrix	brain
35	chr11:77509800-77530000	Weak transcription	NH-A	brain
36	chr11:77510000-77521600	Weak transcription	Thymus	Thymus
37	chr11:77510000-77524600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:77510800-77521200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr11:77511200-77520200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr11:77511400-77526000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:77512000-77521000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:77512000-77521200	Weak transcription	Brain Anterior Caudate	brain
43	chr11:77512000-77521200	Weak transcription	Pancreas	Pancrea
44	chr11:77512000-77522000	Weak transcription	Adipose Nuclei	Adipose
45	chr11:77512000-77522400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr11:77512000-77522800	Weak transcription	Fetal Stomach	stomach
47	chr11:77512000-77524800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:77512000-77525800	Weak transcription	NHDF-Ad	bronchial
49	chr11:77512000-77529600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr11:77512200-77522000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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