Variant report

Variant	esv3418282
Chromosome Location	chr2:180293467-180293792
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569565173	chr2:180293502-180293503	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs7579684	chr2:180293513-180293514	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs13008972	chr2:180293517-180293518	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs574836656	chr2:180293533-180293534	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs540648953	chr2:180293572-180293573	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs538700093	chr2:180293579-180293580	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs554225565	chr2:180293592-180293593	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs377325694	chr2:180293603-180293604	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs111872167	chr2:180293649-180293650	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs545188716	chr2:180293650-180293651	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs192389189	chr2:180293685-180293686	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs554737497	chr2:180293730-180293731	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs530628122	chr2:180293786-180293787	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180288400-180293600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:180291600-180293600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:180292600-180293600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:180292800-180293800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:180292800-180294600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:180292800-180294600	Enhancers	Brain Germinal Matrix	brain
7	chr2:180293000-180293600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:180293000-180293800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:180293000-180294200	Enhancers	Fetal Muscle Leg	muscle
10	chr2:180293000-180294600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:180293200-180293600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:180293200-180293800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:180293200-180293800	Flanking Active TSS	Fetal Brain Female	brain
14	chr2:180293200-180294000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr2:180293200-180294200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:180293200-180294400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr2:180293400-180293600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:180293400-180293600	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr2:180293400-180293600	Active TSS	Brain Cingulate Gyrus	brain
20	chr2:180293400-180293600	Active TSS	Brain Hippocampus Middle	brain
21	chr2:180293400-180293600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:180293400-180293600	Enhancers	Ovary	ovary
23	chr2:180293400-180293800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr2:180293400-180293800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:180293400-180293800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:180293400-180293800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:180293400-180293800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:180293400-180293800	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr2:180293400-180293800	Active TSS	Brain Angular Gyrus	brain
30	chr2:180293400-180293800	Flanking Active TSS	Fetal Brain Male	brain
31	chr2:180293400-180293800	Active TSS	NHDF-Ad	bronchial
32	chr2:180293400-180294000	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr2:180293400-180294000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr2:180293400-180294000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:180293400-180294200	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr2:180293400-180294200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:180293400-180294200	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr2:180293400-180294200	Enhancers	Brain Substantia Nigra	brain
39	chr2:180293400-180294200	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr2:180293400-180294200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
41	chr2:180293400-180294200	Flanking Bivalent TSS/Enh	HepG2	liver
42	chr2:180293400-180294200	Enhancers	NH-A	brain
43	chr2:180293400-180294200	Flanking Active TSS	Osteobl	bone
44	chr2:180293600-180293800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:180293600-180293800	Active TSS	Brain Anterior Caudate	brain
46	chr2:180293600-180293800	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr2:180293600-180293800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:180293600-180294000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:180293600-180294000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:180293600-180294000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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