Variant report

Variant	esv3323979
Chromosome Location	chr21:28554031-28555429
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 63 )

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	rs567441520	chr21:28554095-28554096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536711908	chr21:28554099-28554100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs235960	chr21:28554108-28554109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs567052083	chr21:28554113-28554114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191254881	chr21:28554114-28554115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs118165880	chr21:28554118-28554119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575342009	chr21:28554202-28554203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184359593	chr21:28554209-28554210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376371999	chr21:28554256-28554257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2830756	chr21:28554262-28554263	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs574592057	chr21:28554271-28554272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs235961	chr21:28554340-28554341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs199851730	chr21:28554346-28554347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112086486	chr21:28554445-28554446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190517364	chr21:28554457-28554458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1023406	chr21:28554537-28554538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs139116960	chr21:28554597-28554598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139305609	chr21:28554644-28554645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562419401	chr21:28554645-28554646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546895150	chr21:28554647-28554648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202196628	chr21:28554659-28554660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200738770	chr21:28554660-28554661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531473103	chr21:28554668-28554669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200184600	chr21:28554694-28554695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201814212	chr21:28554697-28554698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368154231	chr21:28554698-28554699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534975086	chr21:28554700-28554701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs57377995	chr21:28554701-28554702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368695006	chr21:28554702-28554703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs59602562	chr21:28554704-28554705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377214192	chr21:28554707-28554708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201259860	chr21:28554711-28554712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs59927695	chr21:28554713-28554714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71185407	chr21:28554714-28554715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150960813	chr21:28554720-28554721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs55994908	chr21:28554737-28554738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58643877	chr21:28554738-28554739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9712751	chr21:28554740-28554741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59283154	chr21:28554744-28554745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9712733	chr21:28554746-28554747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs58908938	chr21:28554750-28554751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60659982	chr21:28554756-28554757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143535564	chr21:28554763-28554764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375148636	chr21:28554764-28554765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3085171	chr21:28554781-28554782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140753018	chr21:28554860-28554861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547062189	chr21:28554875-28554876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566989942	chr21:28554924-28554925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539204384	chr21:28554929-28554930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552778711	chr21:28554981-28554982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
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
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
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	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
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
Acute myeloid leukemia	21251322	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	22174824	CNVD
Renal cell carcinoma	18765545	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28544800-28562200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:28554800-28555400	Enhancers	Spleen	Spleen

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