Variant report

Variant	esv3529838
Chromosome Location	chr21:28194081-28203279
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:
2	chr21:28193660..28195884-chr21:28196743..28198905,2	K562	blood:

Extended variants
information (count: 336 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:336 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541413071	chr21:28194094-28194095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186177614	chr21:28194204-28194205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs578133828	chr21:28194242-28194243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141172247	chr21:28194311-28194312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189797944	chr21:28194319-28194320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75189508	chr21:28194384-28194385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529461283	chr21:28194398-28194399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549320726	chr21:28194408-28194409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181454978	chr21:28194409-28194410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150539781	chr21:28194417-28194418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369219275	chr21:28194430-28194431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551331876	chr21:28194463-28194464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570943216	chr21:28194483-28194484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs467797	chr21:28194528-28194529	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs468994	chr21:28194581-28194582	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs567034571	chr21:28194620-28194621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78415007	chr21:28194672-28194673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73185838	chr21:28194771-28194772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566737845	chr21:28194786-28194787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564925665	chr21:28194800-28194801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538591000	chr21:28194860-28194861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7278460	chr21:28194874-28194875	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs578049564	chr21:28194937-28194938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550636091	chr21:28194956-28194957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557449082	chr21:28195035-28195036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542831406	chr21:28195036-28195037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543199289	chr21:28195075-28195076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559721947	chr21:28195092-28195093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75885252	chr21:28195115-28195116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369907472	chr21:28195119-28195120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569869304	chr21:28195132-28195133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547577451	chr21:28195140-28195141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111542564	chr21:28195145-28195146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530030345	chr21:28195166-28195167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145597360	chr21:28195179-28195180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184992615	chr21:28195203-28195204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567022391	chr21:28195270-28195271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529779411	chr21:28195283-28195284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546758795	chr21:28195328-28195329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189843024	chr21:28195332-28195333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538851265	chr21:28195350-28195351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183109386	chr21:28195408-28195409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569181061	chr21:28195417-28195418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs469162	chr21:28195438-28195439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528694880	chr21:28195443-28195444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs453519	chr21:28195483-28195484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs35612760	chr21:28195484-28195485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs562778794	chr21:28195500-28195501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369695382	chr21:28195501-28195502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141439230	chr21:28195512-28195513	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:36 , 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	chr21:28193200-28195200	Enhancers	Dnd41	blood
4	chr21:28195200-28198400	Weak transcription	Dnd41	blood
5	chr21:28198400-28198800	ZNF genes & repeats	Dnd41	blood
6	chr21:28198600-28198800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr21:28198600-28198800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr21:28198600-28199000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr21:28198600-28199400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr21:28198800-28199000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr21:28198800-28199200	Enhancers	NHDF-Ad	bronchial
12	chr21:28198800-28199400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr21:28198800-28199800	Weak transcription	Dnd41	blood
14	chr21:28198800-28200600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr21:28199000-28199200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr21:28199000-28200600	Enhancers	HMEC	breast
17	chr21:28199000-28208400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr21:28199200-28199800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr21:28199200-28200600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr21:28199200-28200600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr21:28199200-28208800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr21:28199400-28200600	Enhancers	NHEK	skin
23	chr21:28199400-28203600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr21:28199400-28205600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr21:28199600-28199800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr21:28199800-28200600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr21:28199800-28200600	Enhancers	Dnd41	blood
28	chr21:28199800-28205200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr21:28199800-28208800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr21:28200600-28203200	Weak transcription	Dnd41	blood
31	chr21:28200600-28205000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr21:28200600-28205400	Weak transcription	NHEK	skin
33	chr21:28200600-28205800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr21:28200600-28205800	Weak transcription	HMEC	breast
35	chr21:28200600-28208800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr21:28203200-28209000	Enhancers	Dnd41	blood

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