Variant report

Variant	esv3332305
Chromosome Location	chr2:213113516-213114167
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151246848	chr2:213113519-213113520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527342064	chr2:213113520-213113521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376000079	chr2:213113574-213113575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539766446	chr2:213113695-213113696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550535433	chr2:213113706-213113707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113427839	chr2:213113766-213113767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541482855	chr2:213113773-213113774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199814284	chr2:213113793-213113794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571127632	chr2:213113796-213113797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2030474	chr2:213113799-213113800	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs112086807	chr2:213113828-213113829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543750750	chr2:213113833-213113834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113052672	chr2:213113867-213113868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563566811	chr2:213113894-213113895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529150470	chr2:213113900-213113901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554676299	chr2:213113914-213113915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142799213	chr2:213113935-213113936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78578267	chr2:213113951-213113952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533942172	chr2:213113978-213113979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112003078	chr2:213114000-213114001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553683306	chr2:213114022-213114023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551427855	chr2:213114053-213114054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183048585	chr2:213114076-213114077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78584857	chr2:213114091-213114092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550100475	chr2:213114100-213114101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs28539084	chr2:213114124-213114125	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

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
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213107800-213134000	Weak transcription	Aorta	Aorta
2	chr2:213111200-213113600	Weak transcription	Fetal Heart	heart
3	chr2:213113600-213114000	Enhancers	Brain Hippocampus Middle	brain
4	chr2:213113800-213114800	Enhancers	Brain Substantia Nigra	brain
5	chr2:213114000-213114200	Weak transcription	Brain Hippocampus Middle	brain

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