Variant report

Variant	esv3339608
Chromosome Location	chr21:28959631-28960779
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545421610	chr21:28959795-28959796	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs368048993	chr21:28959893-28959894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547862711	chr21:28959941-28959942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570953194	chr21:28959943-28959944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560144247	chr21:28959945-28959946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534593143	chr21:28959956-28959957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs202025254	chr21:28959977-28959978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200470199	chr21:28959985-28959986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12482486	chr21:28959991-28959992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553349085	chr21:28960035-28960036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138065093	chr21:28960056-28960057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576593128	chr21:28960108-28960109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149350774	chr21:28960127-28960128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561104295	chr21:28960239-28960240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188199400	chr21:28960350-28960351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370496797	chr21:28960437-28960438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546372789	chr21:28960456-28960457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7280261	chr21:28960496-28960497	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs538239577	chr21:28960497-28960498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs242352	chr21:28960535-28960536	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs180992682	chr21:28960554-28960555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377602082	chr21:28960559-28960560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117287953	chr21:28960583-28960584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187145619	chr21:28960630-28960631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568158568	chr21:28960663-28960664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538867962	chr21:28960682-28960683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74934876	chr21:28960698-28960699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190811489	chr21:28960711-28960712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575367273	chr21:28960740-28960741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573317963	chr21:28960750-28960751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545194713	chr21:28960756-28960757	Weak transcription Enhancers	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
Gastric cancer	18160780	CNVD
Mental retardation	17621639	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28952400-28962200	Weak transcription	HSMM	muscle
2	chr21:28955400-28962600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr21:28956400-28962600	Weak transcription	Psoas Muscle	Psoas
4	chr21:28957200-28962200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr21:28957200-28962600	Weak transcription	Fetal Muscle Leg	muscle
6	chr21:28958800-28959800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr21:28958800-28959800	Active TSS	NHDF-Ad	bronchial
8	chr21:28959200-28959800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr21:28959200-28959800	Flanking Active TSS	Osteobl	bone
10	chr21:28959400-28959800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr21:28959600-28959800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr21:28959600-28959800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr21:28959600-28962000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr21:28959800-28960000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr21:28959800-28960800	Weak transcription	NHDF-Ad	bronchial
16	chr21:28959800-28960800	Weak transcription	Osteobl	bone
17	chr21:28959800-28961800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr21:28959800-28962000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr21:28960000-28962000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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