Variant report

Variant	esv3476986
Chromosome Location	chr11:85889102-85889626
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85888440..85890283-chr11:85910710..85912765,2	K562	blood:
2	chr11:85868370..85870226-chr11:85888178..85889880,2	K562	blood:
3	chr11:85887077..85889450-chr11:85892380..85895254,3	MCF-7	breast:
4	chr11:85868596..85870226-chr11:85886997..85889880,2	K562	blood:
5	chr11:85887352..85890234-chr11:85905723..85909475,3	K562	blood:

Variant related genes	Relation type
ENSG00000254502	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12791515	chr11:85889118-85889119	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs58318327	chr11:85889146-85889147	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs532550541	chr11:85889173-85889174	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs552749043	chr11:85889211-85889212	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566317984	chr11:85889234-85889235	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs141307197	chr11:85889303-85889304	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs12576372	chr11:85889321-85889322	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs538526154	chr11:85889324-85889325	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs555330954	chr11:85889335-85889336	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs567257603	chr11:85889339-85889340	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs536272251	chr11:85889340-85889341	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs12576381	chr11:85889412-85889413	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs555955596	chr11:85889430-85889431	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs576088333	chr11:85889518-85889519	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs11234570	chr11:85889576-85889577	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs10792834	chr11:85889599-85889600	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs11234571	chr11:85889601-85889602	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs199962821	chr11:85889604-85889605	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs530749017	chr11:85889615-85889616	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs199785421	chr11:85889616-85889617	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Obesity	20622171	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85882600-85890800	Enhancers	Placenta	Placenta
2	chr11:85882600-85891600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr11:85883200-85891400	Weak transcription	Thymus	Thymus
4	chr11:85883800-85890400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr11:85883800-85890800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:85885200-85895200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:85886000-85890200	Weak transcription	Ovary	ovary
8	chr11:85886000-85890800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr11:85886000-85891600	Weak transcription	Brain Substantia Nigra	brain
10	chr11:85886000-85891600	Weak transcription	Fetal Thymus	thymus
11	chr11:85886000-85894000	Weak transcription	Esophagus	oesophagus
12	chr11:85886000-85894000	Weak transcription	Pancreas	Pancrea
13	chr11:85886000-85903000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:85886200-85889800	Weak transcription	Small Intestine	intestine
15	chr11:85886200-85890400	Weak transcription	Lung	lung
16	chr11:85886200-85893800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:85886400-85890200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:85886800-85894000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:85887000-85889600	Weak transcription	NHDF-Ad	bronchial
20	chr11:85887000-85889600	Weak transcription	NHLF	lung
21	chr11:85887000-85890400	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:85887000-85891600	Weak transcription	Brain Angular Gyrus	brain
23	chr11:85887000-85892800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr11:85887000-85894000	Weak transcription	Right Atrium	heart
25	chr11:85887200-85894200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr11:85887200-85898000	Weak transcription	Brain Anterior Caudate	brain
27	chr11:85887600-85891400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:85887800-85889600	Weak transcription	Primary B cells from cord blood	blood
29	chr11:85887800-85892400	Enhancers	Adipose Nuclei	Adipose
30	chr11:85887800-85893800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:85888000-85889200	Weak transcription	HUVEC	blood vessel
32	chr11:85888000-85891400	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr11:85888000-85893400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:85888000-85894000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:85888200-85890400	Weak transcription	Liver	Liver
36	chr11:85888200-85890400	Weak transcription	HepG2	liver
37	chr11:85888600-85889600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:85888600-85893400	Weak transcription	Fetal Intestine Large	intestine
39	chr11:85888800-85889800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:85888800-85890200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:85888800-85890200	Weak transcription	Left Ventricle	heart
42	chr11:85888800-85890200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:85888800-85893000	Weak transcription	Fetal Intestine Small	intestine
44	chr11:85888800-85893400	Weak transcription	HMEC	breast
45	chr11:85888800-85893600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:85888800-85893800	Enhancers	K562	blood
47	chr11:85888800-85894000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:85888800-85894000	Weak transcription	A549	lung
49	chr11:85888800-85894000	Weak transcription	GM12878-XiMat	blood
50	chr11:85888800-85894000	Enhancers	Hela-S3	cervix

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