Variant report

Variant	esv3511053
Chromosome Location	chr2:86453516-86453590
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86451560..86455569-chr2:86456212..86459487,3	K562	blood:
2	chr2:86453452..86455586-chr2:86457167..86459065,2	MCF-7	breast:
3	chr2:86452854..86455973-chr2:86457257..86460636,3	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142068393	chr2:86453528-86453529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12622715	chr2:86453563-86453564	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs549226787	chr2:86453586-86453587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201178974	chr2:86453589-86453590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs199745316	chr2:86453590-86453591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16272173	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86447600-86453600	Weak transcription	Fetal Brain Female	brain
2	chr2:86448200-86454600	Enhancers	Fetal Muscle Leg	muscle
3	chr2:86448200-86454600	Enhancers	Left Ventricle	heart
4	chr2:86449000-86453800	Enhancers	Right Ventricle	heart
5	chr2:86449000-86454200	Enhancers	Fetal Heart	heart
6	chr2:86450000-86453800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:86450200-86458200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:86450800-86455200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:86450800-86455400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:86450800-86457200	Weak transcription	Pancreas	Pancrea
11	chr2:86450800-86463400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:86450800-86476400	Weak transcription	Fetal Brain Male	brain
13	chr2:86451400-86458000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:86451600-86456200	Weak transcription	Fetal Intestine Large	intestine
15	chr2:86451600-86457200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:86451600-86458000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:86451800-86455400	Enhancers	Lung	lung
18	chr2:86451800-86457200	Enhancers	Primary B cells from cord blood	blood
19	chr2:86451800-86457200	Enhancers	Primary B cells from peripheral blood	blood
20	chr2:86451800-86459600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:86451800-86462400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:86452000-86453600	Enhancers	Primary T cells from cord blood	blood
23	chr2:86452000-86453600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr2:86452000-86453800	Weak transcription	Brain Germinal Matrix	brain
25	chr2:86452000-86456600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr2:86452000-86462200	Weak transcription	HSMMtube	muscle
27	chr2:86452200-86453600	Enhancers	Primary T cells fromperipheralblood	blood
28	chr2:86452200-86453600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:86452200-86453800	Enhancers	Primary hematopoietic stem cells	blood
30	chr2:86452200-86461800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:86452400-86458000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:86452400-86458000	Weak transcription	Fetal Lung	lung
33	chr2:86452400-86467400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:86452400-86477400	Weak transcription	Brain Angular Gyrus	brain
35	chr2:86452600-86453600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:86453000-86453600	Enhancers	Stomach Smooth Muscle	stomach
37	chr2:86453000-86455200	Weak transcription	NHEK	skin
38	chr2:86453000-86456200	Weak transcription	Brain Anterior Caudate	brain
39	chr2:86453000-86456200	Weak transcription	Fetal Intestine Small	intestine
40	chr2:86453000-86461600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr2:86453000-86461600	Weak transcription	Colon Smooth Muscle	Colon
42	chr2:86453200-86454400	Enhancers	GM12878-XiMat	blood
43	chr2:86453200-86455200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:86453200-86455800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:86453200-86456200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr2:86453200-86456200	Weak transcription	Fetal Thymus	thymus
47	chr2:86453200-86456600	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr2:86453200-86457600	Weak transcription	Fetal Stomach	stomach
49	chr2:86453200-86458200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:86453200-86459200	Weak transcription	Esophagus	oesophagus

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