Variant report

Variant	esv2500683
Chromosome Location	chr21:15827617-15829217
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:15827441..15829490-chr21:15833516..15835972,2	K562	blood:
2	chr21:15825624..15828360-chr21:15829254..15832008,4	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184313051	chr21:15827630-15827631	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs562887397	chr21:15827680-15827681	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs111510758	chr21:15827689-15827690	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs115643152	chr21:15827700-15827701	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs35801925	chr21:15827867-15827868	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs62229747	chr21:15827916-15827917	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs76914408	chr21:15827922-15827923	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs566394455	chr21:15827989-15827990	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs57440368	chr21:15828005-15828006	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs547962219	chr21:15828076-15828077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116652569	chr21:15828082-15828083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567865736	chr21:15828098-15828099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371543265	chr21:15828167-15828168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574736521	chr21:15828185-15828186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111634165	chr21:15828197-15828198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs60578218	chr21:15828202-15828203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs67639139	chr21:15828203-15828204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72432680	chr21:15828295-15828296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs58582581	chr21:15828298-15828299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377222355	chr21:15828326-15828327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370052106	chr21:15828333-15828334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577292985	chr21:15828371-15828372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141094898	chr21:15828390-15828391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546388630	chr21:15828416-15828417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559999930	chr21:15828439-15828440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17003151	chr21:15828487-15828488	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs11910946	chr21:15828500-15828501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538596605	chr21:15828521-15828522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576676475	chr21:15828529-15828530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558291846	chr21:15828554-15828555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113328804	chr21:15828562-15828563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567013067	chr21:15828624-15828625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188694941	chr21:15828657-15828658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562446565	chr21:15828705-15828706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571963933	chr21:15828713-15828714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143684194	chr21:15828739-15828740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147195187	chr21:15828768-15828769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570424927	chr21:15828777-15828778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373382729	chr21:15828811-15828812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77590636	chr21:15828821-15828822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs199573893	chr21:15828822-15828823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532673415	chr21:15828823-15828824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374963959	chr21:15828824-15828825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12483143	chr21:15828825-15828826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201525995	chr21:15828826-15828827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546347463	chr21:15828855-15828856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566331635	chr21:15828857-15828858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535310292	chr21:15828860-15828861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191995838	chr21:15828911-15828912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376281932	chr21:15828916-15828917	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
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
Sudden cardiac death	19188705	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell lymphomas	19863542	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
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15823800-15828000	Flanking Active TSS	K562	blood
2	chr21:15824000-15828000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr21:15824000-15828200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr21:15824000-15828600	Enhancers	Primary hematopoietic stem cells	blood
5	chr21:15824200-15828200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr21:15826600-15827800	Enhancers	Dnd41	blood
7	chr21:15827400-15827800	Enhancers	Fetal Intestine Small	intestine
8	chr21:15827400-15827800	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr21:15827400-15828200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr21:15827600-15828200	Enhancers	GM12878-XiMat	blood
11	chr21:15828000-15829200	Enhancers	K562	blood

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