Variant report

Variant	esv2762101
Chromosome Location	chr21:28243381-28252829
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:28250452..28250971-chr8:43096088..43096724,2	MCF-7	breast:
2	chr21:28250471..28250972-chr8:43092929..43093429,2	MCF-7	breast:
3	chr21:28250452..28251450-chr4:120183161..120184161,2	MCF-7	breast:
4	chr21:28250471..28250972-chr8:43096078..43096726,3	MCF-7	breast:
5	chr21:28249452..28250952-chr8:43095089..43096753,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GABPA-18	chr21:28249111-28249212	NONHSAT081550

Extended variants
information (count: 191 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:191 , 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	rs114195979	chr21:28248267-28248268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556502874	chr21:28248273-28248274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576408739	chr21:28248308-28248309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201574654	chr21:28248309-28248310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542302256	chr21:28248328-28248329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114658569	chr21:28248386-28248387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34501674	chr21:28248396-28248397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572209848	chr21:28248415-28248416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541195596	chr21:28248420-28248421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564354251	chr21:28248433-28248434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115279296	chr21:28248515-28248516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546769140	chr21:28248566-28248567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543788150	chr21:28248577-28248578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563290309	chr21:28248579-28248580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114323592	chr21:28248623-28248624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548967321	chr21:28248659-28248660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369392762	chr21:28248694-28248695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13052332	chr21:28248765-28248766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs551587136	chr21:28248793-28248794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114992052	chr21:28248816-28248817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10446077	chr21:28248874-28248875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs550643502	chr21:28248905-28248906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374952392	chr21:28248912-28248913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146346239	chr21:28248915-28248916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373985457	chr21:28248917-28248918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199632911	chr21:28248932-28248933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57308707	chr21:28248933-28248934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs387651	chr21:28248947-28248948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377349871	chr21:28248948-28248949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150230523	chr21:28248949-28248950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143245171	chr21:28248951-28248952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139506255	chr21:28248954-28248955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77299449	chr21:28248955-28248956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555751216	chr21:28248956-28248957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572171100	chr21:28248958-28248959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs55785046	chr21:28248962-28248963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367719139	chr21:28248965-28248966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145212983	chr21:28248966-28248967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556958521	chr21:28248967-28248968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544084430	chr21:28248968-28248969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192364541	chr21:28248975-28248976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184639394	chr21:28248984-28248985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574298556	chr21:28248994-28248995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115468229	chr21:28249009-28249010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559425854	chr21:28249015-28249016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536558590	chr21:28249028-28249029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551550903	chr21:28249045-28249046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202220923	chr21:28249070-28249071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs389125	chr21:28249071-28249072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs431134	chr21:28249074-28249075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

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

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28248200-28249200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:28249200-28249400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr21:28249200-28249800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr21:28249400-28249600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr21:28249400-28249600	Active TSS	NHDF-Ad	bronchial
6	chr21:28249600-28249800	Flanking Active TSS	NHDF-Ad	bronchial
7	chr21:28249600-28253800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links