Variant report

Variant	esv2400970
Chromosome Location	chr2:86387061-86387062
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	chr2:86385390..86388017-chr2:86422133..86423833,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273080	chromatin interactions
ENSG00000132305	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 49 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3835960	chr2:86387061-86387062	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Autism	22495309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86335000-86409000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:86335400-86394000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:86335400-86408800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:86335600-86394000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:86335600-86401000	Strong transcription	Placenta	Placenta
6	chr2:86335600-86407400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:86335600-86408600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:86336000-86401200	Strong transcription	Adipose Nuclei	Adipose
9	chr2:86336600-86394200	Strong transcription	Primary T cells from cord blood	blood
10	chr2:86336800-86407400	Strong transcription	Dnd41	blood
11	chr2:86342000-86388000	Strong transcription	A549	lung
12	chr2:86342000-86399800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:86342600-86394000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:86342800-86408600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:86342800-86408600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:86343000-86408600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:86366000-86393200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:86367600-86403400	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr2:86368000-86402000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:86368200-86400600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:86368400-86389800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:86370600-86401400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr2:86371200-86398400	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr2:86375200-86397000	Weak transcription	Small Intestine	intestine
25	chr2:86376400-86387200	Weak transcription	Fetal Heart	heart
26	chr2:86377600-86403200	Weak transcription	Stomach Mucosa	stomach
27	chr2:86378600-86387200	Weak transcription	Colonic Mucosa	Colon
28	chr2:86378600-86387200	Weak transcription	Fetal Kidney	kidney
29	chr2:86378600-86401000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:86378800-86387200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:86379800-86393800	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr2:86379800-86407400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:86380000-86394000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:86380000-86400600	Strong transcription	Duodenum Mucosa	Duodenum
35	chr2:86380000-86401400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:86380200-86388200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:86380600-86394000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:86381000-86400400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:86381000-86400800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:86381200-86393800	Strong transcription	Lung	lung
41	chr2:86381200-86401400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:86381600-86391000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:86381600-86391200	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr2:86381600-86393800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:86381600-86393800	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:86381600-86399600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:86381600-86400800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:86381600-86409000	Strong transcription	Fetal Thymus	thymus
49	chr2:86381800-86388000	Strong transcription	Fetal Lung	lung
50	chr2:86381800-86388200	Strong transcription	Primary B cells from cord blood	blood

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