Variant report

Variant	esv3416951
Chromosome Location	chr21:41519682-41522680
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:41507356..41527112-chr21:41751014..41762921,70	MCF-7	breast:
2	chr21:41520522..41522744-chr21:41548382..41550517,2	MCF-7	breast:
3	chr21:41520868..41523262-chr21:41758481..41760661,3	MCF-7	breast:
4	chr21:41520005..41522029-chr21:41524160..41526539,2	MCF-7	breast:
5	chr21:41518203..41520436-chr21:41521681..41524001,2	MCF-7	breast:
6	chr21:41513242..41523747-chr21:41704483..41713607,25	MCF-7	breast:
7	chr21:41510559..41522908-chr21:41685904..41699622,30	MCF-7	breast:
8	chr21:41518203..41520436-chr21:41521681..41524001,2	MCF-7	breast:
9	chr21:41521642..41524306-chr21:41752532..41754140,2	MCF-7	breast:
10	chr21:41515156..41518019-chr21:41520939..41525508,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235123	chromatin interactions

Extended variants
information (count: 135 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564899914	chr21:41519737-41519738	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs577211823	chr21:41519745-41519746	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539001975	chr21:41519785-41519786	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs4816674	chr21:41519790-41519791	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs567256489	chr21:41519800-41519801	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs186157454	chr21:41519832-41519833	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549731594	chr21:41519842-41519843	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569477015	chr21:41519843-41519844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs551499261	chr21:41519855-41519856	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs558427437	chr21:41519906-41519907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs571347737	chr21:41519928-41519929	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs562685513	chr21:41519942-41519943	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs368757022	chr21:41520023-41520024	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs533951353	chr21:41520027-41520028	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs554092366	chr21:41520040-41520041	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs188971400	chr21:41520056-41520057	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs73225226	chr21:41520075-41520076	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs73225227	chr21:41520090-41520091	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs558717165	chr21:41520094-41520095	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs146613001	chr21:41520102-41520103	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572279941	chr21:41520120-41520121	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs141767088	chr21:41520121-41520122	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs141270397	chr21:41520145-41520146	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs10483063	chr21:41520150-41520151	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs536330610	chr21:41520175-41520176	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540673201	chr21:41520178-41520179	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs560910498	chr21:41520217-41520218	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs529766789	chr21:41520243-41520244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs145058595	chr21:41520316-41520317	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs563190961	chr21:41520326-41520327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs532166818	chr21:41520339-41520340	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs551912695	chr21:41520362-41520363	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs78693191	chr21:41520404-41520405	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs534893172	chr21:41520407-41520408	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs547492587	chr21:41520451-41520452	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs181393379	chr21:41520465-41520466	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs148296088	chr21:41520469-41520470	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs386818655	chr21:41520476-41520477	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs75049662	chr21:41520477-41520478	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs539241845	chr21:41520501-41520502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs140469297	chr21:41520537-41520538	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs73225228	chr21:41520627-41520628	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs111837119	chr21:41520686-41520687	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs62237641	chr21:41520703-41520704	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs79976036	chr21:41520709-41520710	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs150369887	chr21:41520717-41520718	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs73225230	chr21:41520791-41520792	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs563053097	chr21:41520820-41520821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs532032730	chr21:41520834-41520835	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs73225232	chr21:41520845-41520846	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

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
High-grade prostatic intraepithelial neoplasia	16573809	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
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41505000-41526400	Weak transcription	Fetal Muscle Leg	muscle
2	chr21:41510800-41525800	Weak transcription	Brain Germinal Matrix	brain
3	chr21:41513000-41520600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr21:41513200-41523200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr21:41513400-41524400	Weak transcription	Fetal Brain Female	brain
6	chr21:41517200-41528800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr21:41518200-41522800	Weak transcription	Fetal Heart	heart
8	chr21:41519400-41523200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr21:41520600-41520800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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