Variant report

Variant	esv3455356
Chromosome Location	chr21:28298818-28302569
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs170657	chr21:28298856-28298857	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544633851	chr21:28298862-28298863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185750617	chr21:28298863-28298864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368140748	chr21:28298969-28298970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192017	chr21:28298984-28298985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566467301	chr21:28298987-28298988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61596790	chr21:28299004-28299005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35848324	chr21:28299005-28299006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530169472	chr21:28299030-28299031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141034422	chr21:28299031-28299032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs229086	chr21:28299046-28299047	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs144168297	chr21:28299081-28299082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552439514	chr21:28299165-28299166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569576558	chr21:28299198-28299199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537438431	chr21:28299204-28299205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556650992	chr21:28299215-28299216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548119734	chr21:28299335-28299336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567969916	chr21:28299352-28299353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563635451	chr21:28299412-28299413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191884861	chr21:28299418-28299419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182804966	chr21:28299469-28299470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188217194	chr21:28299472-28299473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539678608	chr21:28299503-28299504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2830582	chr21:28299504-28299505	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs151149801	chr21:28299514-28299515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541768943	chr21:28299522-28299523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191359228	chr21:28299548-28299549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574515155	chr21:28299561-28299562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139082806	chr21:28299578-28299579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182182655	chr21:28299592-28299593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532559118	chr21:28299624-28299625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546426425	chr21:28299646-28299647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149914862	chr21:28299647-28299648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531988962	chr21:28299676-28299677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs229087	chr21:28299718-28299719	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs186918170	chr21:28299764-28299765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144998268	chr21:28299783-28299784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547500007	chr21:28299802-28299803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117810817	chr21:28299835-28299836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs229088	chr21:28299848-28299849	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs144785925	chr21:28299910-28299911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73899332	chr21:28299937-28299938	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs229089	chr21:28299990-28299991	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs532464629	chr21:28300007-28300008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192414033	chr21:28300031-28300032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574480312	chr21:28300084-28300085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540272311	chr21:28300095-28300096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553847526	chr21:28300096-28300097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75229157	chr21:28300155-28300156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78018437	chr21:28300161-28300162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28291000-28311800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr21:28291400-28299400	Weak transcription	NHLF	lung
3	chr21:28291600-28312200	Strong transcription	HSMM	muscle
4	chr21:28293000-28334800	Weak transcription	Hela-S3	cervix
5	chr21:28293800-28303600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr21:28294600-28305800	Weak transcription	Small Intestine	intestine
7	chr21:28294600-28318000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr21:28294600-28318200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr21:28294800-28307200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr21:28295000-28303600	Weak transcription	Fetal Intestine Small	intestine
11	chr21:28295200-28306600	Strong transcription	Osteobl	bone
12	chr21:28295200-28310000	Strong transcription	Adipose Nuclei	Adipose
13	chr21:28295400-28300400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr21:28295400-28318200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr21:28295600-28300600	Strong transcription	Fetal Muscle Trunk	muscle
16	chr21:28295800-28300400	Strong transcription	Fetal Muscle Leg	muscle
17	chr21:28296200-28307800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr21:28296600-28300400	Strong transcription	HSMMtube	muscle
19	chr21:28296600-28302200	Weak transcription	Esophagus	oesophagus
20	chr21:28296600-28315400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr21:28296800-28304000	Weak transcription	Fetal Intestine Large	intestine
22	chr21:28296800-28304200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr21:28296800-28305000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr21:28296800-28307400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr21:28296800-28308200	Weak transcription	Fetal Lung	lung
26	chr21:28296800-28318200	Weak transcription	Left Ventricle	heart
27	chr21:28297000-28299200	Weak transcription	Fetal Kidney	kidney
28	chr21:28297000-28299400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr21:28297000-28299400	Weak transcription	NHDF-Ad	bronchial
30	chr21:28297000-28299600	Weak transcription	Spleen	Spleen
31	chr21:28297000-28311800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr21:28297800-28299200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr21:28297800-28308200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr21:28298200-28299600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr21:28298400-28300400	Strong transcription	Fetal Stomach	stomach
36	chr21:28298400-28300600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr21:28298600-28300400	Strong transcription	Ovary	ovary
38	chr21:28298600-28302600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr21:28298600-28311600	Weak transcription	Brain Germinal Matrix	brain
40	chr21:28298600-28313000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr21:28298800-28304000	Weak transcription	Placenta	Placenta
42	chr21:28298800-28311000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr21:28298800-28318200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr21:28299200-28299800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr21:28299200-28300400	Strong transcription	Fetal Kidney	kidney
46	chr21:28299400-28300200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr21:28299400-28300200	Strong transcription	NHLF	lung
48	chr21:28299400-28300600	Strong transcription	NHDF-Ad	bronchial
49	chr21:28299400-28305600	Weak transcription	Fetal Heart	heart
50	chr21:28299600-28300400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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