Variant report

Variant	esv3447163
Chromosome Location	chr1:210891519-210891739
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376067593	chr1:210891521-210891522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539703353	chr1:210891575-210891576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558074347	chr1:210891588-210891589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71146243	chr1:210891594-210891595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201824466	chr1:210891603-210891604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576202275	chr1:210891611-210891612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11119578	chr1:210891617-210891618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201326590	chr1:210891625-210891626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558048448	chr1:210891626-210891627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs66730406	chr1:210891636-210891637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs55782726	chr1:210891647-210891648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57823816	chr1:210891654-210891655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56035757	chr1:210891672-210891673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs56399772	chr1:210891673-210891674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56363803	chr1:210891680-210891681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7531644	chr1:210891681-210891682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368763686	chr1:210891689-210891690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374445451	chr1:210891696-210891697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555207059	chr1:210891698-210891699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573647312	chr1:210891704-210891705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368854687	chr1:210891705-210891706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs57631997	chr1:210891706-210891707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371848696	chr1:210891707-210891708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373260050	chr1:210891708-210891709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75041918	chr1:210891709-210891710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs55968249	chr1:210891711-210891712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9429843	chr1:210891728-210891729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371571123	chr1:210891729-210891730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376278980	chr1:210891731-210891732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61487791	chr1:210891732-210891733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368962170	chr1:210891733-210891734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371819640	chr1:210891736-210891737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210871200-210932000	Weak transcription	HSMM	muscle
2	chr1:210881800-210901200	Weak transcription	Brain Angular Gyrus	brain
3	chr1:210889200-210903200	Weak transcription	HSMMtube	muscle

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