Variant report

Variant	esv3433016
Chromosome Location	chr2:112668960-112669369
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:112660151..112661755-chr2:112668828..112671671,2	MCF-7	breast:
2	chr2:112641052..112643434-chr2:112668646..112671426,4	MCF-7	breast:
3	chr2:112655484..112657101-chr2:112668303..112670079,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153208	chromatin interactions
ENSG00000153107	chromatin interactions

Extended variants
information (count: 9 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572050133	chr2:112669010-112669011	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs540669348	chr2:112669027-112669028	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs11678522	chr2:112669072-112669073	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs181792668	chr2:112669091-112669092	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs186281598	chr2:112669108-112669109	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs146155740	chr2:112669128-112669129	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs532863902	chr2:112669259-112669260	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs34867670	chr2:112669267-112669268	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs552944252	chr2:112669353-112669354	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Schizophrenia	23813976	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112660200-112674400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:112662800-112675800	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:112662800-112677000	Weak transcription	Spleen	Spleen
4	chr2:112663000-112677800	Weak transcription	Right Ventricle	heart
5	chr2:112664200-112669000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:112664200-112669000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:112664600-112674400	Weak transcription	Fetal Stomach	stomach
8	chr2:112664600-112675800	Weak transcription	HUVEC	blood vessel
9	chr2:112664600-112676000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:112664600-112676600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:112664600-112687600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:112664600-112702200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:112664800-112670200	Weak transcription	Placenta	Placenta
14	chr2:112664800-112670200	Weak transcription	Right Atrium	heart
15	chr2:112664800-112674600	Weak transcription	Lung	lung
16	chr2:112664800-112675600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:112664800-112676200	Weak transcription	Thymus	Thymus
18	chr2:112664800-112676600	Weak transcription	Pancreas	Pancrea
19	chr2:112665800-112669400	Weak transcription	Left Ventricle	heart
20	chr2:112666400-112680200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:112666400-112681800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:112666400-112692800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:112666600-112680800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:112666800-112670200	Enhancers	HepG2	liver
25	chr2:112666800-112675600	Weak transcription	K562	blood
26	chr2:112666800-112677400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:112667000-112669000	Enhancers	Brain Hippocampus Middle	brain
28	chr2:112667000-112674600	Weak transcription	Gastric	stomach
29	chr2:112667000-112682000	Weak transcription	Aorta	Aorta
30	chr2:112667000-112684400	Weak transcription	Brain Angular Gyrus	brain
31	chr2:112667200-112670200	Weak transcription	Ovary	ovary
32	chr2:112667200-112674400	Weak transcription	Fetal Intestine Small	intestine
33	chr2:112667200-112675800	Weak transcription	Fetal Intestine Large	intestine
34	chr2:112667400-112676000	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:112667800-112682000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr2:112668200-112669000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:112668200-112674400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:112668400-112669000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:112668400-112669000	Enhancers	Brain Anterior Caudate	brain
40	chr2:112668800-112670000	Weak transcription	Small Intestine	intestine
41	chr2:112668800-112670000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr2:112668800-112670200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr2:112668800-112671400	Enhancers	Liver	Liver
44	chr2:112668800-112674400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:112668800-112674600	Weak transcription	Brain Substantia Nigra	brain
46	chr2:112668800-112676000	Weak transcription	Adipose Nuclei	Adipose
47	chr2:112668800-112676400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:112668800-112676600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr2:112668800-112677200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr2:112668800-112680600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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