Variant report

Variant	esv3402742
Chromosome Location	chr2:206241003-206241302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570628174	chr2:206241029-206241030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149107706	chr2:206241034-206241035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531226302	chr2:206241045-206241046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549783283	chr2:206241056-206241057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143199564	chr2:206241070-206241071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377677532	chr2:206241090-206241091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530466381	chr2:206241103-206241104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144032037	chr2:206241117-206241118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370525706	chr2:206241124-206241125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548890724	chr2:206241151-206241152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79490674	chr2:206241161-206241162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76060154	chr2:206241162-206241163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567079044	chr2:206241170-206241171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546288368	chr2:206241197-206241198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376569040	chr2:206241266-206241267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35550118	chr2:206241271-206241272	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs552412373	chr2:206241296-206241297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
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
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Glioblastoma multiforme	22286061	CNVD
Cancer	20164920	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206240000-206241200	Enhancers	NHDF-Ad	bronchial
2	chr2:206240400-206241200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:206240400-206243000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:206240800-206241200	Enhancers	Fetal Muscle Leg	muscle
5	chr2:206240800-206241400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:206240800-206241400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:206241000-206242800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:206241200-206242600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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