Variant report

Variant	esv3435325
Chromosome Location	chr2:206234025-206234500
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373567287	chr2:206234114-206234115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571001611	chr2:206234148-206234149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577754796	chr2:206234152-206234153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537999673	chr2:206234172-206234173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184230080	chr2:206234181-206234182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574748544	chr2:206234182-206234183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs849207	chr2:206234206-206234207	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs531979581	chr2:206234220-206234221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553669378	chr2:206234225-206234226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143935038	chr2:206234237-206234238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147294607	chr2:206234270-206234271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188577280	chr2:206234305-206234306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576177983	chr2:206234346-206234347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543163631	chr2:206234347-206234348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561775686	chr2:206234399-206234400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575733584	chr2:206234414-206234415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528902988	chr2:206234430-206234431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547382552	chr2:206234432-206234433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7602958	chr2:206234446-206234447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191455589	chr2:206234461-206234462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140948183	chr2:206234466-206234467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144843890	chr2:206234484-206234485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183690992	chr2:206234493-206234494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115756143	chr2:206234499-206234500	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206197600-206240600	Weak transcription	Aorta	Aorta
2	chr2:206232600-206236200	Weak transcription	Brain Substantia Nigra	brain
3	chr2:206232800-206235800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:206234000-206234600	Enhancers	Duodenum Mucosa	Duodenum
5	chr2:206234000-206234800	Enhancers	Fetal Intestine Large	intestine
6	chr2:206234000-206235400	Enhancers	Ovary	ovary
7	chr2:206234400-206237000	Weak transcription	HSMM	muscle

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