Variant report

Variant	esv3366141
Chromosome Location	chr21:41346258-41346543
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 69 )

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	rs577659908	chr21:41346258-41346259	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs142205519	chr21:41346262-41346263	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs541629412	chr21:41346273-41346274	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs561358094	chr21:41346284-41346285	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs368342847	chr21:41346286-41346287	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs62236606	chr21:41346320-41346321	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs543745461	chr21:41346325-41346326	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs575416049	chr21:41346326-41346327	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs563599140	chr21:41346332-41346333	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs113064071	chr21:41346333-41346334	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs80076341	chr21:41346335-41346336	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs28629236	chr21:41346342-41346343	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs78747515	chr21:41346363-41346364	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs62236607	chr21:41346371-41346372	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs531983651	chr21:41346374-41346375	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs551856561	chr21:41346379-41346380	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs565780227	chr21:41346380-41346381	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs113788440	chr21:41346392-41346393	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs111312418	chr21:41346394-41346395	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs62236608	chr21:41346401-41346402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200068820	chr21:41346421-41346422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374742055	chr21:41346422-41346423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62236609	chr21:41346430-41346431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113742828	chr21:41346451-41346452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112447030	chr21:41346453-41346454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9680352	chr21:41346460-41346461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368707544	chr21:41346481-41346482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372023757	chr21:41346489-41346490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9680355	chr21:41346510-41346511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13048892	chr21:41346512-41346513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1734923	chr21:41346519-41346520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377179961	chr21:41346541-41346542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41344400-41353000	Weak transcription	Fetal Kidney	kidney
2	chr21:41344800-41346400	Bivalent Enhancer	Fetal Muscle Leg	muscle

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