Variant report

Variant	esv3437608
Chromosome Location	chr2:213574457-213575505
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375445934	chr2:213574463-213574464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75156290	chr2:213574529-213574530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541980760	chr2:213574537-213574538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533543238	chr2:213574561-213574562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369513349	chr2:213574567-213574568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191195314	chr2:213574602-213574603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564179792	chr2:213574619-213574620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75643578	chr2:213574638-213574639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371986518	chr2:213574655-213574656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112617772	chr2:213574687-213574688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563818666	chr2:213574733-213574734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568479465	chr2:213574735-213574736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535535158	chr2:213574736-213574737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529600879	chr2:213574767-213574768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184616883	chr2:213574884-213574885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547829320	chr2:213574898-213574899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567741388	chr2:213574900-213574901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375908601	chr2:213574954-213574955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552019620	chr2:213574967-213574968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373398805	chr2:213574968-213574969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376013813	chr2:213575011-213575012	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539601342	chr2:213575053-213575054	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558331798	chr2:213575135-213575136	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573426970	chr2:213575150-213575151	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534520687	chr2:213575179-213575180	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144880183	chr2:213575197-213575198	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs16849118	chr2:213575237-213575238	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs13007317	chr2:213575354-213575355	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs149120240	chr2:213575446-213575447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575415262	chr2:213575471-213575472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213571600-213577000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:213572800-213574800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:213572800-213578200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:213574000-213575000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:213574000-213576000	Weak transcription	NHLF	lung
6	chr2:213574200-213575200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:213574200-213577000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:213574800-213576800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:213575000-213575400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:213575200-213576200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:213575400-213577600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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