Variant report

Variant	esv275324
Chromosome Location	chr21:28280501-28284521
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GABPA-5	chr21:28282185-28282349	ENSG00000223563.1

Extended variants
information (count: 155 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:155 , 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	rs535940179	chr21:28280595-28280596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528607963	chr21:28280617-28280618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116240091	chr21:28280621-28280622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192401907	chr21:28280637-28280638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564383655	chr21:28280707-28280708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78779119	chr21:28280744-28280745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546169691	chr21:28280751-28280752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184995956	chr21:28280787-28280788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141218063	chr21:28280822-28280823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188467269	chr21:28280839-28280840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543095637	chr21:28280882-28280883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368818277	chr21:28280906-28280907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527866101	chr21:28280910-28280911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369517227	chr21:28280959-28280960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547615995	chr21:28280963-28280964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10533285	chr21:28281057-28281058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551648053	chr21:28281059-28281060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs398121556	chr21:28281060-28281061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs397787768	chr21:28281061-28281062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571112164	chr21:28281080-28281081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539702712	chr21:28281135-28281136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150767245	chr21:28281136-28281137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77378242	chr21:28281189-28281190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9917492	chr21:28281203-28281204	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs145294980	chr21:28281204-28281205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192918505	chr21:28281317-28281318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541224951	chr21:28281333-28281334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147206433	chr21:28281345-28281346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185438702	chr21:28281359-28281360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111887098	chr21:28281386-28281387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543573167	chr21:28281389-28281390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140620238	chr21:28281406-28281407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576707718	chr21:28281410-28281411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563623425	chr21:28281470-28281471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78130892	chr21:28281490-28281491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189548603	chr21:28281493-28281494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145331704	chr21:28281544-28281545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527818022	chr21:28281560-28281561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145207389	chr21:28281579-28281580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112551815	chr21:28281616-28281617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148738290	chr21:28281619-28281620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533593499	chr21:28281688-28281689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181297280	chr21:28281713-28281714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574895512	chr21:28281731-28281732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142369988	chr21:28281746-28281747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs151298371	chr21:28281778-28281779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183584080	chr21:28281860-28281861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527725651	chr21:28281880-28281881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565771196	chr21:28281908-28281909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35452242	chr21:28281945-28281946	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28276400-28281400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr21:28276400-28282200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr21:28276400-28284400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr21:28276600-28281800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr21:28280400-28281000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr21:28281000-28281400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr21:28281000-28282200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr21:28281400-28281800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr21:28281400-28283200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr21:28281800-28282000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr21:28281800-28283000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr21:28282000-28282200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr21:28282000-28282400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr21:28282000-28282400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr21:28282000-28282400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr21:28282000-28282600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr21:28282000-28283000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr21:28282000-28283000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr21:28282000-28283400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr21:28282000-28283600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr21:28282000-28284000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr21:28282200-28282400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr21:28282200-28282400	Enhancers	Fetal Kidney	kidney
24	chr21:28282200-28282600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr21:28282200-28282600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr21:28282200-28283000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr21:28282200-28283600	Enhancers	HSMM	muscle
28	chr21:28282400-28282600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr21:28282400-28282600	Enhancers	NHDF-Ad	bronchial
30	chr21:28282400-28283400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr21:28282400-28283600	Enhancers	HSMMtube	muscle
32	chr21:28282400-28295000	Weak transcription	Fetal Kidney	kidney
33	chr21:28282600-28282800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr21:28282600-28283200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr21:28282600-28283400	Weak transcription	NHDF-Ad	bronchial
36	chr21:28282600-28285800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr21:28282800-28283800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr21:28283000-28283200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr21:28283000-28289000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr21:28283200-28283400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr21:28283200-28283400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr21:28283200-28283600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr21:28283400-28283600	Enhancers	H9 Cell Line	embryonic stem cell
44	chr21:28283400-28283600	Enhancers	NHDF-Ad	bronchial
45	chr21:28283400-28283800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr21:28283600-28284600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr21:28283600-28284800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr21:28283600-28286800	Weak transcription	HSMM	muscle
49	chr21:28283600-28290800	Weak transcription	HSMMtube	muscle
50	chr21:28283600-28290800	Weak transcription	NHDF-Ad	bronchial

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