Variant report

Variant	esv3388898
Chromosome Location	chr2:210458107-210459305
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 57 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553632488	chr2:210458118-210458119	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566771346	chr2:210458122-210458123	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538997722	chr2:210458131-210458132	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558788581	chr2:210458195-210458196	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115510738	chr2:210458219-210458220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544710099	chr2:210458256-210458257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369613896	chr2:210458364-210458365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555249188	chr2:210458372-210458373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575064666	chr2:210458374-210458375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540961584	chr2:210458376-210458377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs58330460	chr2:210458391-210458392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112231687	chr2:210458398-210458399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375646209	chr2:210458482-210458483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs56888176	chr2:210458484-210458485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368067888	chr2:210458523-210458524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs58653622	chr2:210458531-210458532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539681748	chr2:210458542-210458543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58863536	chr2:210458552-210458553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs57003263	chr2:210458556-210458557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs60466127	chr2:210458564-210458565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142770959	chr2:210458567-210458568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs55961311	chr2:210458583-210458584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12621656	chr2:210458629-210458630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375037715	chr2:210458630-210458631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201738760	chr2:210458643-210458644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373492646	chr2:210458644-210458645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185934843	chr2:210458645-210458646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369669986	chr2:210458668-210458669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139314446	chr2:210458744-210458745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191040064	chr2:210458749-210458750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545742709	chr2:210458774-210458775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562334362	chr2:210458789-210458790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552619059	chr2:210458793-210458794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566063528	chr2:210458801-210458802	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555866029	chr2:210458841-210458842	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575517243	chr2:210458859-210458860	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555177048	chr2:210458877-210458878	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183176043	chr2:210458938-210458939	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12615372	chr2:210458991-210458992	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs547400814	chr2:210459050-210459051	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570681700	chr2:210459069-210459070	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538666662	chr2:210459140-210459141	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185965082	chr2:210459176-210459177	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs80040011	chr2:210459188-210459189	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538371225	chr2:210459194-210459195	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368379000	chr2:210459197-210459198	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555085402	chr2:210459231-210459232	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575102228	chr2:210459257-210459258	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540783476	chr2:210459267-210459268	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554177405	chr2:210459280-210459281	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Acute lymphoblastic leukemia	22237106	CNVD
Developmental delay	21147756	CNVD
Mantle cell lymphoma	21518781	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210443600-210461000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:210446600-210461600	Weak transcription	Brain Angular Gyrus	brain
3	chr2:210447800-210460400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:210456400-210464400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:210456800-210458200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:210456800-210458800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:210457000-210465200	Weak transcription	Fetal Brain Female	brain
8	chr2:210457000-210465400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:210457200-210458800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:210457400-210459000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:210457400-210460400	Weak transcription	Left Ventricle	heart
12	chr2:210457400-210463200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:210457400-210465000	Weak transcription	Brain Germinal Matrix	brain
14	chr2:210458800-210459000	Enhancers	Pancreas	Pancrea
15	chr2:210458800-210460000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:210458800-210463200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:210459000-210459200	Weak transcription	Pancreas	Pancrea
18	chr2:210459000-210463000	Strong transcription	Cortex derived primary cultured neurospheres	brain

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