Variant report

Variant	esv3350852
Chromosome Location	chr11:83400204-83402802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:83396661..83398511-chr11:83401392..83404007,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562587285	chr11:83400209-83400210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533153823	chr11:83400215-83400216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78153507	chr11:83400232-83400233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560039860	chr11:83400261-83400262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527560848	chr11:83400279-83400280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546625142	chr11:83400301-83400302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142306028	chr11:83400356-83400357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535625040	chr11:83400377-83400378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113434321	chr11:83400398-83400399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143179828	chr11:83400408-83400409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78893460	chr11:83400410-83400411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149234697	chr11:83400425-83400426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540037519	chr11:83400444-83400445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75502374	chr11:83400449-83400450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567196271	chr11:83400470-83400471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534477295	chr11:83400502-83400503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555442966	chr11:83400585-83400586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368521907	chr11:83400587-83400588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573578584	chr11:83400590-83400591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370975085	chr11:83400601-83400602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374428993	chr11:83400648-83400649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149441671	chr11:83400661-83400662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78054862	chr11:83400721-83400722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186516329	chr11:83400735-83400736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191301893	chr11:83400771-83400772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183800980	chr11:83400799-83400800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573214467	chr11:83400895-83400896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533199894	chr11:83400904-83400905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs71465552	chr11:83400950-83400951	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542512461	chr11:83400956-83400957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560804929	chr11:83400958-83400959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540636785	chr11:83401019-83401020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs60850924	chr11:83401022-83401023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549824084	chr11:83401038-83401039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529074514	chr11:83401051-83401052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529299871	chr11:83401075-83401076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73509232	chr11:83401188-83401189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76082167	chr11:83401241-83401242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533244164	chr11:83401291-83401292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552035714	chr11:83401318-83401319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193136460	chr11:83401373-83401374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534544481	chr11:83401393-83401394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185200375	chr11:83401396-83401397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567822428	chr11:83401479-83401480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150221401	chr11:83401563-83401564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555865741	chr11:83401708-83401709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11233716	chr11:83401709-83401710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565253053	chr11:83401730-83401731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11233717	chr11:83401731-83401732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544696063	chr11:83401733-83401734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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	17899364	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
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Cancer	20164920	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83393000-83403800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:83393600-83402400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:83393600-83402400	Weak transcription	Pancreas	Pancrea
4	chr11:83393800-83401800	Weak transcription	Brain Angular Gyrus	brain
5	chr11:83394000-83402400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:83394000-83404400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:83394200-83402600	Weak transcription	Left Ventricle	heart
8	chr11:83394400-83402000	Weak transcription	Brain Anterior Caudate	brain
9	chr11:83394400-83402600	Weak transcription	Fetal Brain Male	brain
10	chr11:83399600-83402200	Weak transcription	Brain Substantia Nigra	brain
11	chr11:83399600-83402400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:83399600-83404200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:83399800-83400400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr11:83399800-83400600	Enhancers	Fetal Lung	lung
15	chr11:83399800-83400800	Enhancers	Hela-S3	cervix
16	chr11:83399800-83401000	Enhancers	Fetal Heart	heart
17	chr11:83400000-83400400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:83400000-83400600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:83400000-83400800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:83400000-83400800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:83400200-83400800	Enhancers	Brain Hippocampus Middle	brain
22	chr11:83400200-83402200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr11:83400400-83402000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr11:83400400-83404800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:83400600-83402000	Weak transcription	Fetal Lung	lung
26	chr11:83400600-83402200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:83400800-83402000	Weak transcription	Brain Hippocampus Middle	brain
28	chr11:83400800-83402200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:83400800-83404200	Weak transcription	Hela-S3	cervix
30	chr11:83401000-83401400	Weak transcription	Fetal Heart	heart
31	chr11:83401400-83405800	Enhancers	Fetal Heart	heart
32	chr11:83401800-83404800	Enhancers	Brain Angular Gyrus	brain
33	chr11:83402000-83402400	Enhancers	Fetal Lung	lung
34	chr11:83402000-83402600	Enhancers	Right Atrium	heart
35	chr11:83402000-83402600	Enhancers	NHEK	skin
36	chr11:83402000-83402800	Enhancers	Adipose Nuclei	Adipose
37	chr11:83402000-83402800	Enhancers	Duodenum Mucosa	Duodenum
38	chr11:83402000-83402800	Enhancers	Rectal Smooth Muscle	rectum
39	chr11:83402000-83403000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:83402000-83403000	Enhancers	Fetal Intestine Large	intestine
41	chr11:83402000-83403000	Enhancers	Fetal Intestine Small	intestine
42	chr11:83402000-83403000	Enhancers	Fetal Muscle Leg	muscle
43	chr11:83402000-83403400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:83402000-83405800	Enhancers	Brain Hippocampus Middle	brain
45	chr11:83402000-83407200	Enhancers	Brain Anterior Caudate	brain
46	chr11:83402200-83402800	Enhancers	Stomach Mucosa	stomach
47	chr11:83402200-83403000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:83402200-83403000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:83402200-83403000	Enhancers	Brain Cingulate Gyrus	brain
50	chr11:83402200-83403000	Enhancers	Skeletal Muscle Male	skeletal muscle

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