Variant report

Variant	esv3433032
Chromosome Location	chr21:28326731-28329129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180782343	chr21:28326770-28326771	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs140746116	chr21:28326781-28326782	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs538772673	chr21:28326794-28326795	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs162508	chr21:28326842-28326843	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs561079592	chr21:28326864-28326865	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538149899	chr21:28326865-28326866	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555195427	chr21:28326869-28326870	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376124989	chr21:28326871-28326872	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs162507	chr21:28326894-28326895	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs540198348	chr21:28326904-28326905	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs162506	chr21:28326941-28326942	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs376127263	chr21:28327015-28327016	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs376923748	chr21:28327016-28327017	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs200565374	chr21:28327027-28327028	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs576990867	chr21:28327050-28327051	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs150750089	chr21:28327059-28327060	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs137866717	chr21:28327082-28327083	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs149469399	chr21:28327095-28327096	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs200065623	chr21:28327111-28327112	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs562532375	chr21:28327120-28327121	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs202109841	chr21:28327121-28327122	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs369607939	chr21:28327207-28327208	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs373344670	chr21:28327211-28327212	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs561977563	chr21:28327220-28327221	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs376615329	chr21:28327223-28327224	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs527596755	chr21:28327233-28327234	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs565091854	chr21:28327251-28327252	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs55711406	chr21:28327270-28327271	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs542787462	chr21:28327299-28327300	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs546561981	chr21:28327314-28327315	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs368253824	chr21:28327318-28327319	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs12626485	chr21:28327320-28327321	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs191834948	chr21:28327340-28327341	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs569350083	chr21:28327429-28327430	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs538393047	chr21:28327443-28327444	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs184121773	chr21:28327470-28327471	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs233601	chr21:28327495-28327496	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs534522404	chr21:28327529-28327530	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs553786874	chr21:28327595-28327596	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs576954579	chr21:28327611-28327612	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576485606	chr21:28327612-28327613	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545575797	chr21:28327635-28327636	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4817146	chr21:28327719-28327720	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576067405	chr21:28327765-28327766	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188179446	chr21:28327792-28327793	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561569305	chr21:28327819-28327820	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527562412	chr21:28327932-28327933	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547325700	chr21:28328008-28328009	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74342687	chr21:28328096-28328097	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548763713	chr21:28328115-28328116	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28293000-28334800	Weak transcription	Hela-S3	cervix
2	chr21:28306600-28333600	Weak transcription	Fetal Intestine Large	intestine
3	chr21:28309600-28337200	Weak transcription	Fetal Heart	heart
4	chr21:28317000-28330400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr21:28318600-28327000	Weak transcription	Psoas Muscle	Psoas
6	chr21:28318600-28333800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr21:28318600-28336600	Weak transcription	Left Ventricle	heart
8	chr21:28319200-28334200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr21:28319400-28328600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr21:28319600-28328400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr21:28319600-28334600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr21:28321000-28326800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr21:28321000-28328400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr21:28322000-28327400	Strong transcription	Osteobl	bone
15	chr21:28322600-28328400	Weak transcription	Fetal Stomach	stomach
16	chr21:28323200-28334600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr21:28324600-28326800	Genic enhancers	Adipose Nuclei	Adipose
18	chr21:28324600-28327600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr21:28324600-28327600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr21:28325000-28326800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr21:28325000-28327000	Genic enhancers	HSMMtube	muscle
22	chr21:28325000-28332200	Weak transcription	Spleen	Spleen
23	chr21:28325200-28327000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr21:28325200-28327200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr21:28325400-28326800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr21:28325400-28327000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr21:28325600-28327000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr21:28325600-28330200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr21:28325600-28331000	Weak transcription	Fetal Kidney	kidney
30	chr21:28325600-28334200	Weak transcription	NHLF	lung
31	chr21:28325800-28328000	Enhancers	NHDF-Ad	bronchial
32	chr21:28326200-28327000	Weak transcription	Fetal Brain Female	brain
33	chr21:28326200-28328600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr21:28326400-28327000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr21:28326400-28329000	Genic enhancers	HSMM	muscle
36	chr21:28326400-28330800	Enhancers	Fetal Brain Male	brain
37	chr21:28326600-28326800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr21:28326600-28327000	Genic enhancers	Fetal Muscle Leg	muscle
39	chr21:28326600-28327200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr21:28326600-28327200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr21:28326600-28327200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr21:28326600-28327200	Genic enhancers	Ovary	ovary
43	chr21:28326600-28327400	Enhancers	Brain Germinal Matrix	brain
44	chr21:28326800-28327000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr21:28326800-28327000	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr21:28326800-28327400	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr21:28326800-28327800	Enhancers	Adipose Nuclei	Adipose
48	chr21:28326800-28329000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr21:28327000-28327200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr21:28327000-28327200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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