Variant report

Variant	esv3391238
Chromosome Location	chr21:37890368-37890851
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	chr21:37889840..37891789-chr21:37901394..37902895,2	MCF-7	breast:
2	chr21:37882896..37885656-chr21:37890791..37892598,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5843766	chr21:37890373-37890374	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs201304875	chr21:37890374-37890375	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs71198821	chr21:37890384-37890385	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs3030072	chr21:37890403-37890404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs57527435	chr21:37890407-37890408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183317029	chr21:37890417-37890418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187860000	chr21:37890426-37890427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551412542	chr21:37890484-37890485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569642980	chr21:37890604-37890605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200745288	chr21:37890619-37890620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551638413	chr21:37890620-37890621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11701001	chr21:37890621-37890622	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs527585136	chr21:37890625-37890626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547433681	chr21:37890649-37890650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs5027467	chr21:37890653-37890654	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs377345632	chr21:37890725-37890726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143890530	chr21:37890749-37890750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556720237	chr21:37890762-37890763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11909629	chr21:37890805-37890806	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs190740937	chr21:37890811-37890812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559130811	chr21:37890817-37890818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572606213	chr21:37890823-37890824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567363081	chr21:37890831-37890832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77297711	chr21:37890834-37890835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541722744	chr21:37890846-37890847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
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
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
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
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
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
Ovarian cancer	22174824	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Acute myeloid leukemia	17237825	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Down syndrome	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Down syndrome	21154855	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37883200-37895000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr21:37888600-37891600	Weak transcription	Primary B cells from cord blood	blood
3	chr21:37888800-37891000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr21:37890000-37892400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr21:37890200-37890400	Flanking Active TSS	GM12878-XiMat	blood
6	chr21:37890400-37891000	Enhancers	GM12878-XiMat	blood

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