Variant report

Variant	esv2119466
Chromosome Location	chr2:113038561-113038562
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	chr2:113032184..113035804-chr2:113038196..113041130,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188177	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 66 )

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	rs111565441	chr2:113038561-113038562	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113034200-113058200	Weak transcription	Ovary	ovary
2	chr2:113034400-113047800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:113034400-113051400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:113034400-113097000	Weak transcription	Psoas Muscle	Psoas
5	chr2:113034600-113039600	Weak transcription	Fetal Heart	heart
6	chr2:113034800-113039600	Weak transcription	HepG2	liver
7	chr2:113034800-113041400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:113035000-113046000	Weak transcription	Fetal Kidney	kidney
9	chr2:113035000-113057800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:113035000-113057800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:113035000-113057800	Weak transcription	Fetal Intestine Small	intestine
12	chr2:113035200-113040200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:113035400-113040600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:113035400-113047600	Weak transcription	Osteobl	bone
15	chr2:113035600-113040400	Weak transcription	Brain Anterior Caudate	brain
16	chr2:113035600-113041200	Weak transcription	K562	blood
17	chr2:113035600-113047600	Weak transcription	NHDF-Ad	bronchial
18	chr2:113035600-113058200	Weak transcription	Primary B cells from cord blood	blood
19	chr2:113035800-113040200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:113035800-113058000	Weak transcription	Primary T cells from cord blood	blood
21	chr2:113035800-113060400	Weak transcription	Fetal Thymus	thymus
22	chr2:113035800-113067400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:113036000-113040000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:113036000-113040000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr2:113036000-113040600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:113036200-113041200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:113036600-113040000	Weak transcription	Liver	Liver
28	chr2:113036600-113058000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr2:113037000-113040000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr2:113037000-113054200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:113038000-113038600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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