Variant report

Variant	esv3390983
Chromosome Location	chr21:28168060-28168660
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	chr21:28168344..28170400-chr21:28409264..28410987,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565073052	chr21:28168064-28168065	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs530644442	chr21:28168075-28168076	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs2830531	chr21:28168090-28168091	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs369650154	chr21:28168109-28168110	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs57567245	chr21:28168110-28168111	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs114641163	chr21:28168123-28168124	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs76998366	chr21:28168132-28168133	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs189500940	chr21:28168133-28168134	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs368356679	chr21:28168134-28168135	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs558004983	chr21:28168141-28168142	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs76602988	chr21:28168173-28168174	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs141179310	chr21:28168185-28168186	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs532687947	chr21:28168186-28168187	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs398061677	chr21:28168193-28168194	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs375500175	chr21:28168194-28168195	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs537606989	chr21:28168196-28168197	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs2830533	chr21:28168246-28168247	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs574336080	chr21:28168295-28168296	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs2830534	chr21:28168303-28168304	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs552920554	chr21:28168313-28168314	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs138454995	chr21:28168314-28168315	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs545064658	chr21:28168345-28168346	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs564798980	chr21:28168356-28168357	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs143072477	chr21:28168394-28168395	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs117398963	chr21:28168404-28168405	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs182048922	chr21:28168539-28168540	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs143855670	chr21:28168578-28168579	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs2830535	chr21:28168603-28168604	Enhancers Weak transcription Active TSS Flanking Active TSS	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28156200-28168200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr21:28163600-28168200	Weak transcription	Fetal Lung	lung
3	chr21:28163600-28172400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr21:28167200-28168400	Enhancers	Dnd41	blood
5	chr21:28167200-28168600	Enhancers	Ovary	ovary
6	chr21:28167600-28168400	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr21:28167600-28168400	Flanking Active TSS	Hela-S3	cervix
8	chr21:28167600-28168600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr21:28167600-28168600	Enhancers	NH-A	brain
10	chr21:28167600-28168800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr21:28167600-28169200	Enhancers	Brain Germinal Matrix	brain
12	chr21:28167600-28169400	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr21:28167600-28169600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr21:28167600-28170000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr21:28167800-28168200	Weak transcription	Brain Angular Gyrus	brain
16	chr21:28167800-28168400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr21:28167800-28168600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr21:28167800-28168600	Enhancers	Fetal Muscle Leg	muscle
19	chr21:28167800-28168800	Enhancers	HSMMtube	muscle
20	chr21:28167800-28169000	Enhancers	Fetal Stomach	stomach
21	chr21:28167800-28169400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr21:28168000-28168200	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr21:28168000-28168400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr21:28168000-28168400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr21:28168000-28168400	Enhancers	Brain Cingulate Gyrus	brain
26	chr21:28168000-28168400	Enhancers	Fetal Intestine Small	intestine
27	chr21:28168000-28168400	Flanking Active TSS	Osteobl	bone
28	chr21:28168000-28168600	Enhancers	Colon Smooth Muscle	Colon
29	chr21:28168000-28168800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr21:28168000-28168800	Enhancers	HSMM	muscle
31	chr21:28168000-28169000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr21:28168000-28169200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr21:28168000-28169400	Enhancers	Fetal Heart	heart
34	chr21:28168200-28168400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr21:28168200-28168400	Enhancers	Placenta	Placenta
36	chr21:28168200-28168400	Enhancers	Left Ventricle	heart
37	chr21:28168200-28168600	Active TSS	Brain Anterior Caudate	brain
38	chr21:28168200-28168600	Active TSS	Brain Hippocampus Middle	brain
39	chr21:28168200-28168600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr21:28168200-28168800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr21:28168200-28168800	Active TSS	Brain Angular Gyrus	brain
42	chr21:28168200-28168800	Enhancers	Rectal Smooth Muscle	rectum
43	chr21:28168200-28169000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr21:28168200-28169000	Enhancers	Fetal Lung	lung
45	chr21:28168200-28169000	Enhancers	NHLF	lung
46	chr21:28168400-28168800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr21:28168400-28168800	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr21:28168400-28169000	Enhancers	Osteobl	bone
49	chr21:28168400-28169400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr21:28168400-28171600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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