Variant report

Variant	esv3693299
Chromosome Location	chr21:28196045-28200449
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	chr21:28193660..28195884-chr21:28196743..28198905,2	K562	blood:

Extended variants
information (count: 179 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs459210	chr21:28196045-28196046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550976344	chr21:28196128-28196129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567515702	chr21:28196129-28196130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536671355	chr21:28196138-28196139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553152515	chr21:28196147-28196148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs80025667	chr21:28196163-28196164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538855123	chr21:28196223-28196224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138186239	chr21:28196244-28196245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56145711	chr21:28196251-28196252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143921227	chr21:28196254-28196255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73185840	chr21:28196258-28196259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs561270563	chr21:28196263-28196264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75392587	chr21:28196282-28196283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188565980	chr21:28196327-28196328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540230265	chr21:28196336-28196337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559980766	chr21:28196359-28196360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377647606	chr21:28196360-28196361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs67458608	chr21:28196392-28196393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112656630	chr21:28196394-28196395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397748370	chr21:28196397-28196398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200749861	chr21:28196398-28196399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532278913	chr21:28196402-28196403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552376436	chr21:28196540-28196541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562706198	chr21:28196547-28196548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532279599	chr21:28196550-28196551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368345257	chr21:28196602-28196603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531552212	chr21:28196640-28196641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192875151	chr21:28196686-28196687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568345468	chr21:28196692-28196693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183155500	chr21:28196722-28196723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147292195	chr21:28196782-28196783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60964152	chr21:28196791-28196792	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs75501695	chr21:28196798-28196799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538785124	chr21:28196804-28196805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186665745	chr21:28196825-28196826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575408736	chr21:28196829-28196830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538053986	chr21:28196881-28196882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74549510	chr21:28196904-28196905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575116001	chr21:28196925-28196926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539842669	chr21:28196972-28196973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560118527	chr21:28196981-28196982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541918619	chr21:28197019-28197020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79747011	chr21:28197023-28197024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529625659	chr21:28197024-28197025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112769838	chr21:28197031-28197032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376911500	chr21:28197062-28197063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs468919	chr21:28197071-28197072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs566604425	chr21:28197079-28197080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144914578	chr21:28197132-28197133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531485860	chr21:28197135-28197136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Non-syndromic sensorineural hearing loss	19212409	CNVD
Hypoplastic left heart syndrome	22349727	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28188400-28198600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr21:28192600-28199800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:28195200-28198400	Weak transcription	Dnd41	blood
4	chr21:28198400-28198800	ZNF genes & repeats	Dnd41	blood
5	chr21:28198600-28198800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:28198600-28198800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr21:28198600-28199000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr21:28198600-28199400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr21:28198800-28199000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr21:28198800-28199200	Enhancers	NHDF-Ad	bronchial
11	chr21:28198800-28199400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr21:28198800-28199800	Weak transcription	Dnd41	blood
13	chr21:28198800-28200600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr21:28199000-28199200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr21:28199000-28200600	Enhancers	HMEC	breast
16	chr21:28199000-28208400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr21:28199200-28199800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr21:28199200-28200600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr21:28199200-28200600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr21:28199200-28208800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr21:28199400-28200600	Enhancers	NHEK	skin
22	chr21:28199400-28203600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr21:28199400-28205600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr21:28199600-28199800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr21:28199800-28200600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr21:28199800-28200600	Enhancers	Dnd41	blood
27	chr21:28199800-28205200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr21:28199800-28208800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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