Variant report

Variant	esv2557753
Chromosome Location	chr2:100632494-100632496
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 52 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372652667	chr2:100632494-100632495	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111427155	chr2:100632496-100632497	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	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
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100612000-100634200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:100615600-100638400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:100620600-100635200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:100623600-100633400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:100623800-100635200	Weak transcription	Brain Angular Gyrus	brain
6	chr2:100624000-100634200	Weak transcription	Adipose Nuclei	Adipose
7	chr2:100624200-100632600	Weak transcription	Gastric	stomach
8	chr2:100624800-100657800	Weak transcription	Brain Germinal Matrix	brain
9	chr2:100625200-100634600	Weak transcription	Fetal Thymus	thymus
10	chr2:100625600-100632600	Weak transcription	Thymus	Thymus
11	chr2:100626600-100634400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:100626600-100637800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:100626800-100637600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:100627000-100637800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:100627200-100635800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr2:100627800-100637800	Strong transcription	Primary B cells from cord blood	blood
17	chr2:100628000-100633000	Weak transcription	Primary T cells from cord blood	blood
18	chr2:100628200-100635200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:100628400-100634600	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:100628600-100634200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:100629000-100632800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:100629200-100634200	Weak transcription	Right Atrium	heart
23	chr2:100629400-100649600	Weak transcription	Fetal Brain Female	brain
24	chr2:100630600-100632600	Weak transcription	Pancreas	Pancrea
25	chr2:100631000-100634800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:100631200-100632600	Weak transcription	Fetal Brain Male	brain
27	chr2:100631200-100632600	Weak transcription	NHLF	lung
28	chr2:100631200-100633400	Weak transcription	NHDF-Ad	bronchial
29	chr2:100631200-100634000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:100631200-100634000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:100631200-100634200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:100631400-100633600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:100631600-100633800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:100631800-100633800	Weak transcription	Osteobl	bone
35	chr2:100631800-100637400	Strong transcription	Primary B cells from peripheral blood	blood
36	chr2:100632000-100634000	Weak transcription	NH-A	brain
37	chr2:100632200-100632800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:100632200-100633400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:100632200-100633600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:100632200-100634000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:100632400-100632800	ZNF genes & repeats	Esophagus	oesophagus
42	chr2:100632400-100632800	ZNF genes & repeats	Fetal Lung	lung
43	chr2:100632400-100633400	ZNF genes & repeats	Spleen	Spleen
44	chr2:100632400-100633600	ZNF genes & repeats	Fetal Kidney	kidney
45	chr2:100632400-100633600	ZNF genes & repeats	Lung	lung
46	chr2:100632400-100633600	Strong transcription	Ovary	ovary
47	chr2:100632400-100633800	Strong transcription	Dnd41	blood

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